A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656814



Internal ID9922919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240191..46242954hg38UCSC Ensembl
chr1:46705863..46708626hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382764
hg192764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6149193, essv6113228, essv6352342, essv5630184, essv6593067, essv5878272, essv5489457, essv6023800, essv5867882
SamplesHG00542, HG00592, NA19332, NA18959, NA19445, NA19908, HG00556, NA18858, NA19334
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656814
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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