A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979489



Internal ID12633574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48164250..48330950hg38UCSC Ensembl
Innerchr12:48558033..48724733hg19UCSC Ensembl
Innerchr12:46844300..47011000hg18UCSC Ensembl
Innerchr12:46844300..47011000hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38166701
hg19166701
hg18166701
hg17166701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34439
Supporting Variants
SamplesNA18563
Known GenesC12orf68, H1FNT, OR10AD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979489
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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