esv2667386

Organism: Homo sapiens

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

Variant Calls:15
Validation:Yes
Clinical Assertions: No
Region Size:8,785

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: 259 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):56,201,994-56,210,778

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2667386	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
esv2667386	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	56,713,363	56,722,147

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5407317	deletion	SAMN00001158	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,358
essv5460415	deletion	SAMN00001191	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,461
essv5584670	deletion	SAMN00001628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,528
essv5603889	deletion	SAMN00001674	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625
essv5612952	deletion	SAMN00007738	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,656
essv5650263	deletion	SAMN00001131	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,611
essv5692633	deletion	SAMN00001125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,568
essv5963675	deletion	SAMN00001668	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,411
essv6064267	deletion	SAMN00001128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,720
essv6065113	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv6078831	deletion	SAMN00001130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,544
essv6376057	deletion	SAMN00001152	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv6391263	deletion	SAMN00007734	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,582
essv6396003	deletion	SAMN00001592	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,597
essv6566483	deletion	SAMN00001109	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	966

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5407317	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5460415	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5584670	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5603889	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5612952	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5650263	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5692633	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5963675	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6064267	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6065113	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6078831	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6376057	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6391263	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6396003	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv6566483	Remapped	Perfect	NC_000019.10:g.562 01994_56210778delT	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,201,994	56,210,778
essv5407317	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5460415	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5584670	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5603889	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5612952	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5650263	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5692633	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv5963675	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6064267	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6065113	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6078831	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6376057	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6391263	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6396003	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147
essv6566483	Submitted genomic		NC_000019.9:g.5671 3363_56722147delT	GRCh37 (hg19)		NC_000019.9	Chr19	56,713,363	56,722,147

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6065113	9	SAMN00000478	Oligo aCGH	Probe signal intensity	Pass
essv6566483	9	SAMN00001109	Oligo aCGH	Probe signal intensity	Pass
essv5692633	9	SAMN00001125	Oligo aCGH	Probe signal intensity	Pass
essv6064267	9	SAMN00001128	Oligo aCGH	Probe signal intensity	Pass
essv6078831	9	SAMN00001130	Oligo aCGH	Probe signal intensity	Pass
essv5650263	9	SAMN00001131	Oligo aCGH	Probe signal intensity	Pass
essv6376057	9	SAMN00001152	Oligo aCGH	Probe signal intensity	Pass
essv5407317	9	SAMN00001158	Oligo aCGH	Probe signal intensity	Pass
essv5460415	9	SAMN00001191	Oligo aCGH	Probe signal intensity	Pass
essv6396003	9	SAMN00001592	Oligo aCGH	Probe signal intensity	Pass
essv5584670	9	SAMN00001628	Oligo aCGH	Probe signal intensity	Pass
essv5963675	9	SAMN00001668	Oligo aCGH	Probe signal intensity	Pass
essv5603889	9	SAMN00001674	Oligo aCGH	Probe signal intensity	Pass
essv6391263	9	SAMN00007734	Oligo aCGH	Probe signal intensity	Pass
essv5612952	9	SAMN00007738	Oligo aCGH	Probe signal intensity	Pass
essv6065113	7	SAMN00000478	SNP array	Probe signal intensity	Pass
essv6566483	7	SAMN00001109	SNP array	Probe signal intensity	Pass
essv5692633	7	SAMN00001125	SNP array	Probe signal intensity	Pass
essv6064267	7	SAMN00001128	SNP array	Probe signal intensity	Pass
essv6078831	7	SAMN00001130	SNP array	Probe signal intensity	Pass
essv5650263	7	SAMN00001131	SNP array	Probe signal intensity	Pass
essv6376057	7	SAMN00001152	SNP array	Probe signal intensity	Pass
essv5407317	7	SAMN00001158	SNP array	Probe signal intensity	Pass
essv5460415	7	SAMN00001191	SNP array	Probe signal intensity	Pass
essv6396003	7	SAMN00001592	SNP array	Probe signal intensity	Pass
essv5584670	7	SAMN00001628	SNP array	Probe signal intensity	Pass
essv5963675	7	SAMN00001668	SNP array	Probe signal intensity	Pass
essv5603889	7	SAMN00001674	SNP array	Probe signal intensity	Pass
essv6391263	7	SAMN00007734	SNP array	Probe signal intensity	Pass
essv5612952	7	SAMN00007738	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2667386

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