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dbVar

Database of genomic structural variation

esv3847132

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:10,614

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: 119 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):147,002,302-147,013,915

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847132	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	147,002,802 (-500, +0)	147,013,415 (-0, +500)
esv3847132	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	147,323,938 (-500, +0)	147,334,551 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20422303	deletion	HG03567	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv20422304	deletion	NA18909	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,010

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20422303	Remapped	Perfect	NC_000006.12:g.(14 7002302_147002802) _(147013415_147013 915)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	147,002,802 (-500, +0)	147,013,415 (-0, +500)
essv20422304	Remapped	Perfect	NC_000006.12:g.(14 7002302_147002802) _(147013415_147013 915)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	147,002,802 (-500, +0)	147,013,415 (-0, +500)
essv20422303	Submitted genomic		NC_000006.11:g.(14 7323438_147323938) _(147334551_147335 051)del	GRCh37 (hg19)		NC_000006.11	Chr6	147,323,938 (-500, +0)	147,334,551 (-0, +500)
essv20422304	Submitted genomic		NC_000006.11:g.(14 7323438_147323938) _(147334551_147335 051)del	GRCh37 (hg19)		NC_000006.11	Chr6	147,323,938 (-500, +0)	147,334,551 (-0, +500)

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.

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