A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979490



Internal ID12633608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48165850..48347450hg38UCSC Ensembl
Innerchr12:48559633..48741233hg19UCSC Ensembl
Innerchr12:46845900..47027500hg18UCSC Ensembl
Innerchr12:46845900..47027500hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38181601
hg19181601
hg18181601
hg17181601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34439
Supporting Variants
SamplesNA18563
Known GenesC12orf68, H1FNT, OR10AD1, ZNF641
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979490
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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