A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661703



Internal ID9581122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428991..10444418hg38UCSC Ensembl
chr12:10581590..10597017hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815428
hg1915428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264e199
Supporting Variantsessv5879680, essv6099782, essv6241838, essv6149390, essv6464826, essv6008520, essv5844529
SamplesHG01052, HG01051, HG00553, HG00179, HG00360, HG01137, HG00327
Known GenesKLRC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661703
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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