A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628511



Internal ID6668654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9604249..9611309hg38UCSC Ensembl
chr12:9756845..9763905hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387061
hg197061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14370894, essv14370893, essv14370892, essv14370895
SamplesNA18757, NA18639, HG00355, NA20502
Known GenesKLRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628511
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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