A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591180



Internal ID6978508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69276764..69290042hg38UCSC Ensembl
Innerchr2:69276914..69289892hg38UCSC Ensembl
Outerchr2:69276614..69290192hg38UCSC Ensembl
chr2:69503896..69517174hg19UCSC Ensembl
Innerchr2:69504046..69517024hg19UCSC Ensembl
Outerchr2:69503746..69517324hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3813279
hg1913279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10534359
SamplesHG00458
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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