A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979488



Internal ID12633575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48153345..48347436hg38UCSC Ensembl
Innerchr12:48547128..48741219hg19UCSC Ensembl
Innerchr12:46833395..47027486hg18UCSC Ensembl
Innerchr12:46833395..47027486hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38194092
hg19194092
hg18194092
hg17194092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34439
Supporting Variants
SamplesNA18563
Known GenesASB8, C12orf68, H1FNT, OR10AD1, ZNF641
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979488
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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