A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661479



Internal ID9927584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157262484..157263275hg38UCSC Ensembl
chr2:158118996..158119787hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6312724, essv6209143, essv6428384, essv6162482, essv5933970, essv5468419, essv5441455, essv5635134, essv6223069, essv5779064, essv6193880, essv5727158, essv5583221, essv6024715, essv6534460, essv5438969, essv6186403, essv5535887, essv6122464, essv6074684, essv6159108
SamplesNA19914, NA18870, NA18489, NA18960, NA11992, NA19904, HG01067, NA19159, NA11831, NA12489, NA19152, NA18910, NA18499, NA19453, NA18953, NA19444, NA19144, NA19102, NA18873, NA18505, NA18522
Known GenesGALNT5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661479
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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