esv3869239

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:11
Validation:Not tested
Clinical Assertions: No
Region Size:22,656

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 566 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):126,512,564-126,535,362

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3869239	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
esv3869239	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23002351	deletion	HG00254	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,343
essv23002352	deletion	HG01705	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,649
essv23002353	deletion	HG02230	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,275
essv23002354	deletion	HG02429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv23002355	deletion	HG03916	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,153
essv23002356	deletion	NA12813	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,188
essv23002357	deletion	NA19771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,145
essv23002358	deletion	NA20521	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,672
essv23002359	deletion	NA20529	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,384
essv23002360	deletion	NA21110	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,122
essv23002361	deletion	NA21112	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,509

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23002351	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002352	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002353	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002354	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002355	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002356	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002357	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002358	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002359	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002360	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002361	Remapped	Perfect	NC_000012.12:g.(12 6512564_126512637) _(126535292_126535 362)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,512,637 (-73, +0)	126,535,292 (-0, +70)
essv23002351	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002352	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002353	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002354	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002355	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002356	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002357	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002358	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002359	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002360	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)
essv23002361	Submitted genomic		NC_000012.11:g.(12 6997110_126997183) _(127019838_127019 908)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,183 (-73, +0)	127,019,838 (-0, +70)

dbVar

Database of genomic structural variation

esv3869239

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.