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dbVar

Database of genomic structural variation

esv2659707

Organism: Homo sapiens

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

Variant Calls:9
Validation:Yes
Clinical Assertions: No
Region Size:5,163

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: 148 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):153,747,243-153,752,405

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659707	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
esv2659707	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	153,465,032	153,470,194

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5396519	deletion	SAMN00001188	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,129
essv5484240	deletion	SAMN00007735	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,353
essv5489314	deletion	SAMN00001128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,720
essv5780358	deletion	SAMN00007742	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,283
essv5819149	deletion	SAMN00001180	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,453
essv5863044	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6263913	deletion	SAMN00001184	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,618
essv6340156	deletion	SAMN00001175	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,327
essv6504850	deletion	SAMN00000476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5396519	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv5484240	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv5489314	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv5780358	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv5819149	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv5863044	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv6263913	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv6340156	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv6504850	Remapped	Perfect	NC_000003.12:g.153 747243_153752405de lACAGCA	GRCh38.p12	First Pass	NC_000003.12	Chr3	153,747,243	153,752,405
essv5396519	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv5484240	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv5489314	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv5780358	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv5819149	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv5863044	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv6263913	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv6340156	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194
essv6504850	Submitted genomic		NC_000003.11:g.153 465032_153470194de lACAGCA	GRCh37 (hg19)		NC_000003.11	Chr3	153,465,032	153,470,194

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6504850	7	SAMN00000476	SNP array	Probe signal intensity	Pass
essv5489314	7	SAMN00001128	SNP array	Probe signal intensity	Pass
essv6340156	7	SAMN00001175	SNP array	Probe signal intensity	Pass
essv5819149	7	SAMN00001180	SNP array	Probe signal intensity	Pass
essv6263913	7	SAMN00001184	SNP array	Probe signal intensity	Pass
essv5396519	7	SAMN00001188	SNP array	Probe signal intensity	Pass
essv5863044	7	SAMN00001629	SNP array	Probe signal intensity	Pass
essv5484240	7	SAMN00007735	SNP array	Probe signal intensity	Pass
essv5780358	7	SAMN00007742	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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