A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662921



Internal ID9929026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10483496..10485937hg38UCSC Ensembl
chr1:10543553..10545994hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382442
hg192442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6578484, essv6400559, essv6283446, essv5786737, essv5923144, essv6012579, essv5967521, essv5809170, essv6081180, essv5653749, essv5518392
SamplesNA19399, NA20317, NA19313, NA19138, NA19372, NA19347, NA18499, NA19338, NA20296, NA19380, NA19713
Known GenesPEX14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662921
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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