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dbVar

Database of genomic structural variation

esv3823771

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:48,925

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: 300 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):34,078,282-34,128,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3823771	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	34,078,782 (-500, +0)	34,127,706 (-0, +500)
esv3823771	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	34,303,849 (-500, +0)	34,352,773 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17600123	deletion	HG02232	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,295
essv17600124	deletion	HG02763	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,095

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17600123	Remapped	Perfect	NC_000002.12:g.(34 078282_34078782)_( 34127706_34128206) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	34,078,782 (-500, +0)	34,127,706 (-0, +500)
essv17600124	Remapped	Perfect	NC_000002.12:g.(34 078282_34078782)_( 34127706_34128206) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	34,078,782 (-500, +0)	34,127,706 (-0, +500)
essv17600123	Submitted genomic		NC_000002.11:g.(34 303349_34303849)_( 34352773_34353273) del	GRCh37 (hg19)		NC_000002.11	Chr2	34,303,849 (-500, +0)	34,352,773 (-0, +500)
essv17600124	Submitted genomic		NC_000002.11:g.(34 303349_34303849)_( 34352773_34353273) del	GRCh37 (hg19)		NC_000002.11	Chr2	34,303,849 (-500, +0)	34,352,773 (-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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