A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2358n54



Internal ID20135782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10379727..10577222hg38UCSC Ensembl
chr12:10532326..10729821hg19UCSC Ensembl
chr12:10423593..10621088hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38197496
hg19197496
hg18197496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557457, nsv557458, nsv557459, nsv557456
Samples
Known GenesKLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2358n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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