A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674752



Internal ID9940857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5509849..5510395hg38UCSC Ensembl
Outerchr2:5509810..5510452hg38UCSC Ensembl
Innerchr2:5649981..5650527hg19UCSC Ensembl
Outerchr2:5649942..5650584hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6142085, essv5690602, essv5480539, essv5613785, essv6176969, essv6391097, essv6037031, essv5528258, essv6195447, essv6202030, essv5769519, essv6251307, essv6136030, essv6223063, essv6025625, essv5846792, essv6375314, essv6069783, essv5630955, essv5582246, essv6079927, essv5787134, essv5565028, essv6082291, essv6527837, essv5587901, essv5435495
SamplesNA19466, NA19396, NA19381, NA19448, NA19457, NA20291, NA20340, NA19317, NA18934, NA19391, NA19455, NA20126, NA20344, NA19453, NA19395, NA20296, NA19435, NA19444, NA19331, NA19428, NA19328, NA19223, NA20289, NA18873, NA19316, NA20322, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674752
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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