A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2359n54



Internal ID20135783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10416038..10449091hg38UCSC Ensembl
chr12:10568637..10601690hg19UCSC Ensembl
chr12:10459904..10492957hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3833054
hg1933054
hg1833054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557463, nsv557466, nsv557468, nsv557464, nsv557469, nsv557460, nsv557462, nsv557461, nsv557467
Samples
Known GenesKLRC1, KLRC2, KLRC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2359n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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