esv2673771

Organism: Homo sapiens

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

Variant Calls:10
Validation:Yes
Clinical Assertions: No
Region Size:42,422

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: 411 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):165,323,153-165,365,574

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2673771	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
esv2673771	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	165,040,941	165,083,362

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5482290	deletion	SAMN00001301	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	779
essv5648002	deletion	SAMN00006357	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,585
essv5717205	deletion	SAMN00014342	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,537
essv5821970	deletion	SAMN00007704	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,133
essv5840920	deletion	SAMN00000403	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	878
essv6303921	deletion	SAMN00001269	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	881
essv6318193	deletion	SAMN00004643	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,095
essv6500328	deletion	SAMN00001525	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,320
essv6516645	deletion	SAMN00007792	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,081
essv6597431	deletion	SAMN00009186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,372

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5482290	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv5648002	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv5717205	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv5821970	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv5840920	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv6303921	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv6318193	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv6500328	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv6516645	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv6597431	Remapped	Perfect	NC_000003.12:g.165 323153_165365574de lTATAT	GRCh38.p12	First Pass	NC_000003.12	Chr3	165,323,153	165,365,574
essv5482290	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv5648002	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv5717205	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv5821970	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv5840920	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv6303921	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv6318193	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv6500328	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv6516645	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362
essv6597431	Submitted genomic		NC_000003.11:g.165 040941_165083362de lTATAT	GRCh37 (hg19)		NC_000003.11	Chr3	165,040,941	165,083,362

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5840920	7	SAMN00000403	SNP array	Probe signal intensity	Pass
essv6303921	7	SAMN00001269	SNP array	Probe signal intensity	Pass
essv5482290	7	SAMN00001301	SNP array	Probe signal intensity	Pass
essv6500328	7	SAMN00001525	SNP array	Probe signal intensity	Pass
essv6318193	7	SAMN00004643	SNP array	Probe signal intensity	Pass
essv5648002	7	SAMN00006357	SNP array	Probe signal intensity	Pass
essv5821970	7	SAMN00007704	SNP array	Probe signal intensity	Pass
essv6516645	7	SAMN00007792	SNP array	Probe signal intensity	Pass
essv6597431	7	SAMN00009186	SNP array	Probe signal intensity	Pass
essv5717205	7	SAMN00014342	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2673771

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