A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784841



Internal ID18813315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10430766..10530730hg38UCSC Ensembl
Innerchr12:10583365..10683329hg19UCSC Ensembl
Innerchr12:10474632..10574596hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3899965
hg1999965
hg1899965
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892138
Supporting Variants
Samples
Known GenesKLRC1, KLRC2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784841
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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