A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14370890



Internal ID4372706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9604249..9611309hg38UCSC Ensembl
chr12:9756845..9763905hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387061
hg197061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628510
Supporting Variants
SamplesNA12413
Known GenesKLRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14370890
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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