A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14370892



Internal ID4372708
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628511
Supporting Variants
SamplesHG00355
Known GenesKLRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14370892
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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