A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590231



Internal ID6977560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31849071..31850390hg38UCSC Ensembl
Innerchr2:31849071..31850390hg38UCSC Ensembl
Outerchr2:31848866..31850605hg38UCSC Ensembl
chr2:32074140..32075459hg19UCSC Ensembl
Innerchr2:32074140..32075459hg19UCSC Ensembl
Outerchr2:32073935..32075674hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447553, essv10447552
SamplesNA20766, HG00736
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590231
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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