A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14374302



Internal ID2046815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10416900..10432783hg38UCSC Ensembl
Innerchr12:10417400..10432283hg38UCSC Ensembl
Outerchr12:10415900..10433783hg38UCSC Ensembl
chr12:10569499..10585382hg19UCSC Ensembl
Innerchr12:10569999..10584882hg19UCSC Ensembl
Outerchr12:10568499..10586382hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815884
hg1915884
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628536
Supporting Variants
SamplesHG01871
Known GenesKLRC2, KLRC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14374302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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