A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667482



Internal ID9586901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20606193..20607400hg38UCSC Ensembl
chr1:20932686..20933893hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6137654, essv6560816, essv5433646, essv6196714, essv5544381, essv5518407
SamplesNA18561, NA11920, NA18574, HG00635, HG00578, HG00581
Known GenesCDA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667482
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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