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dbVar

Database of genomic structural variation

esv3826537

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:4,337

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: 161 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):149,017,780-149,022,487

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3826537	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	149,017,928 (-148, +0)	149,022,264 (-0, +223)
esv3826537	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571033.2	Chr2\|NW_00 3571033.2	89,940 (-148, +0)	94,276 (-0, +223)
esv3826537	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	149,874,442 (-148, +0)	149,878,778 (-0, +223)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17894546	deletion	NA18545	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,168

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17894546	Remapped	Perfect	NW_003571033.2:g.( 89792_89940)_(9427 6_94499)del	GRCh38.p12	Second Pass	NW_003571033.2	Chr2\|NW_00 3571033.2	89,940 (-148, +0)	94,276 (-0, +223)
essv17894546	Remapped	Perfect	NC_000002.12:g.(14 9017780_149017928) _(149022264_149022 487)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	149,017,928 (-148, +0)	149,022,264 (-0, +223)
essv17894546	Submitted genomic		NC_000002.11:g.(14 9874294_149874442) _(149878778_149879 001)del	GRCh37 (hg19)		NC_000002.11	Chr2	149,874,442 (-148, +0)	149,878,778 (-0, +223)

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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