A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671689



Internal ID9937794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44238277..44241533hg38UCSC Ensembl
Outerchr2:44237906..44241903hg38UCSC Ensembl
Innerchr2:44465416..44468672hg19UCSC Ensembl
Outerchr2:44465045..44469042hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6386686, essv6118783, essv5420519, essv5914272, essv5698053, essv5905292, essv5799522, essv6080315, essv5933630, essv6531411, essv5908162, essv5733509, essv6023331
SamplesHG00189, HG00181, HG00270, HG00334, HG00188, HG00282, HG00320, HG00273, HG00373, HG00331, HG00319, HG00186, HG00343
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671689
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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