esv2665039

Organism: Homo sapiens

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

Variant Calls:13
Validation:Yes
Clinical Assertions: No
Region Size:8,876

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: 337 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):27,078,641-27,087,516

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2665039	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
esv2665039	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	28,450,960	28,459,835

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5516925	deletion	SAMN00009253	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,267
essv5560787	deletion	SAMN00001247	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,015
essv5675025	deletion	SAMN00001118	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,283
essv5733644	deletion	SAMN00000574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,208
essv5901421	deletion	SAMN00001627	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,454
essv6067217	deletion	SAMN00006337	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,004
essv6249161	deletion	SAMN00797406	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,361
essv6272032	deletion	SAMN00007744	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,376
essv6284883	deletion	SAMN00007810	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6331771	deletion	SAMN00009106	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,631
essv6350773	deletion	SAMN00001127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,924
essv6356066	deletion	SAMN00001147	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,637
essv6433533	deletion	SAMN00007817	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,168

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5516925	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv5560787	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv5675025	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv5733644	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv5901421	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6067217	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6249161	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6272032	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6284883	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6331771	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6350773	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6356066	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv6433533	Remapped	Perfect	NC_000021.9:g.2707 8641_27087516delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	27,078,641	27,087,516
essv5516925	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv5560787	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv5675025	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv5733644	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv5901421	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6067217	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6249161	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6272032	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6284883	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6331771	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6350773	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6356066	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835
essv6433533	Submitted genomic		NC_000021.8:g.2845 0960_28459835delA	GRCh37 (hg19)		NC_000021.8	Chr21	28,450,960	28,459,835

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5733644	7	SAMN00000574	SNP array	Probe signal intensity	Pass
essv5675025	7	SAMN00001118	SNP array	Probe signal intensity	Pass
essv6350773	7	SAMN00001127	SNP array	Probe signal intensity	Pass
essv6356066	7	SAMN00001147	SNP array	Probe signal intensity	Pass
essv5560787	7	SAMN00001247	SNP array	Probe signal intensity	Pass
essv5901421	7	SAMN00001627	SNP array	Probe signal intensity	Pass
essv6067217	7	SAMN00006337	SNP array	Probe signal intensity	Pass
essv6272032	7	SAMN00007744	SNP array	Probe signal intensity	Pass
essv6284883	7	SAMN00007810	SNP array	Probe signal intensity	Pass
essv6433533	7	SAMN00007817	SNP array	Probe signal intensity	Pass
essv6331771	7	SAMN00009106	SNP array	Probe signal intensity	Pass
essv5516925	7	SAMN00009253	SNP array	Probe signal intensity	Pass
essv6249161	7	SAMN00797406	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2665039

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