esv2659093

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:24
Validation:Yes
Clinical Assertions: No
Region Size:9,672

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 311 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):92,356,984-92,366,655

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659093	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
esv2659093	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	93,009,237	93,018,908

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5442214	deletion	SAMN00000549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,136
essv5446277	deletion	SAMN00001122	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,437
essv5477964	deletion	SAMN00001589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,492
essv5616579	deletion	SAMN00001102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,259
essv5795783	deletion	SAMN00001186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,212
essv5835775	deletion	SAMN00001127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,924
essv5846787	deletion	SAMN00000475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv5848755	deletion	SAMN00001129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,603
essv5921756	deletion	SAMN00001168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv5958638	deletion	SAMN00001174	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,500
essv6009842	deletion	SAMN00001131	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,611
essv6016655	deletion	SAMN00001178	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,252
essv6038195	deletion	SAMN00001166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv6059636	deletion	SAMN00001157	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv6075569	deletion	SAMN00001173	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,274
essv6089757	deletion	SAMN00001163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,404
essv6264975	deletion	SAMN00000575	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	989
essv6295441	deletion	SAMN00007810	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6321285	deletion	SAMN00001147	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,637
essv6352765	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv6474685	deletion	SAMN00000565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,221
essv6494030	deletion	SAMN00001684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv6535296	deletion	SAMN00001140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625
essv6587642	deletion	SAMN00001172	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,516

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5442214	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5446277	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5477964	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5616579	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5795783	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5835775	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5846787	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5848755	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5921756	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5958638	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6009842	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6016655	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6038195	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6059636	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6075569	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6089757	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6264975	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6295441	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6321285	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6352765	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6474685	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6494030	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6535296	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv6587642	Remapped	Perfect	NC_000013.11:g.923 56984_92366655delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	92,356,984	92,366,655
essv5442214	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5446277	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5477964	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5616579	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5795783	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5835775	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5846787	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5848755	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5921756	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv5958638	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6009842	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6016655	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6038195	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6059636	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6075569	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6089757	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6264975	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6295441	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6321285	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6352765	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6474685	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6494030	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6535296	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908
essv6587642	Submitted genomic		NC_000013.10:g.930 09237_93018908delT	GRCh37 (hg19)		NC_000013.10	Chr13	93,009,237	93,018,908

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6352765	9	SAMN00000414	Oligo aCGH	Probe signal intensity	Pass
essv5846787	9	SAMN00000475	Oligo aCGH	Probe signal intensity	Pass
essv5442214	9	SAMN00000549	Oligo aCGH	Probe signal intensity	Pass
essv6474685	9	SAMN00000565	Oligo aCGH	Probe signal intensity	Pass
essv6264975	9	SAMN00000575	Oligo aCGH	Probe signal intensity	Pass
essv5616579	9	SAMN00001102	Oligo aCGH	Probe signal intensity	Pass
essv5446277	9	SAMN00001122	Oligo aCGH	Probe signal intensity	Pass
essv5835775	9	SAMN00001127	Oligo aCGH	Probe signal intensity	Pass
essv5848755	9	SAMN00001129	Oligo aCGH	Probe signal intensity	Pass
essv6009842	9	SAMN00001131	Oligo aCGH	Probe signal intensity	Pass
essv6535296	9	SAMN00001140	Oligo aCGH	Probe signal intensity	Pass
essv6321285	9	SAMN00001147	Oligo aCGH	Probe signal intensity	Pass
essv6059636	9	SAMN00001157	Oligo aCGH	Probe signal intensity	Pass
essv6089757	9	SAMN00001163	Oligo aCGH	Probe signal intensity	Pass
essv6038195	9	SAMN00001166	Oligo aCGH	Probe signal intensity	Pass
essv5921756	9	SAMN00001168	Oligo aCGH	Probe signal intensity	Pass
essv6587642	9	SAMN00001172	Oligo aCGH	Probe signal intensity	Pass
essv6075569	9	SAMN00001173	Oligo aCGH	Probe signal intensity	Pass
essv5958638	9	SAMN00001174	Oligo aCGH	Probe signal intensity	Pass
essv6016655	9	SAMN00001178	Oligo aCGH	Probe signal intensity	Pass
essv5795783	9	SAMN00001186	Oligo aCGH	Probe signal intensity	Pass
essv5477964	9	SAMN00001589	Oligo aCGH	Probe signal intensity	Pass
essv6494030	9	SAMN00001684	Oligo aCGH	Probe signal intensity	Pass
essv6295441	9	SAMN00007810	Oligo aCGH	Probe signal intensity	Pass
essv6352765	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv5846787	7	SAMN00000475	SNP array	Probe signal intensity	Pass
essv5442214	7	SAMN00000549	SNP array	Probe signal intensity	Pass
essv6474685	7	SAMN00000565	SNP array	Probe signal intensity	Pass
essv6264975	7	SAMN00000575	SNP array	Probe signal intensity	Pass
essv5616579	7	SAMN00001102	SNP array	Probe signal intensity	Pass
essv5446277	7	SAMN00001122	SNP array	Probe signal intensity	Pass
essv5835775	7	SAMN00001127	SNP array	Probe signal intensity	Pass
essv5848755	7	SAMN00001129	SNP array	Probe signal intensity	Pass
essv6009842	7	SAMN00001131	SNP array	Probe signal intensity	Pass
essv6535296	7	SAMN00001140	SNP array	Probe signal intensity	Pass
essv6321285	7	SAMN00001147	SNP array	Probe signal intensity	Pass
essv6059636	7	SAMN00001157	SNP array	Probe signal intensity	Pass
essv6089757	7	SAMN00001163	SNP array	Probe signal intensity	Pass
essv6038195	7	SAMN00001166	SNP array	Probe signal intensity	Pass
essv5921756	7	SAMN00001168	SNP array	Probe signal intensity	Pass
essv6587642	7	SAMN00001172	SNP array	Probe signal intensity	Pass
essv6075569	7	SAMN00001173	SNP array	Probe signal intensity	Pass
essv5958638	7	SAMN00001174	SNP array	Probe signal intensity	Pass
essv6016655	7	SAMN00001178	SNP array	Probe signal intensity	Pass
essv5795783	7	SAMN00001186	SNP array	Probe signal intensity	Pass
essv5477964	7	SAMN00001589	SNP array	Probe signal intensity	Pass
essv6494030	7	SAMN00001684	SNP array	Probe signal intensity	Pass
essv6295441	7	SAMN00007810	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2659093

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant