A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658661



Internal ID9924766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150887787..150890334hg38UCSC Ensembl
chr1:150860263..150862810hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5699133, essv5696511, essv6091301, essv5898907, essv5979928, essv6174270, essv6023783, essv5494327, essv6509811, essv6023212, essv6499999, essv6183031, essv6193234, essv6333651, essv6387751, essv5852016
SamplesNA20508, HG01465, NA20517, HG00346, NA12761, HG01067, HG00137, HG01183, NA20800, NA20809, NA12144, NA20542, HG00124, HG00119, NA18623, HG00554
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658661
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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