A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670801



Internal ID9936906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203032593..203039399hg38UCSC Ensembl
Outerchr2:203032222..203039769hg38UCSC Ensembl
Innerchr2:203897316..203904122hg19UCSC Ensembl
Outerchr2:203896945..203904492hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387548
hg197548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5419999, essv5685956, essv6301403, essv6456946, essv5852021, essv6441402, essv5443382, essv6397147, essv5555217, essv5725460, essv5448695, essv5456183, essv6403534
SamplesHG01098, HG01188, HG00737, HG01051, HG01167, HG01067, HG01198, HG01183, HG00740, HG01047, HG01197, HG00554, HG01061
Known GenesNBEAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670801
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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