A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796977



Internal ID18818835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10384670..10444607hg38UCSC Ensembl
Innerchr12:10537269..10597206hg19UCSC Ensembl
Innerchr12:10428536..10488473hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3859938
hg1959938
hg1859938
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892136
Supporting Variants
Samples
Known GenesKLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRK1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796977
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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