A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978767



Internal ID12632399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7738810..7963472hg38UCSC Ensembl
Innerchr12:7891406..8116068hg19UCSC Ensembl
Innerchr12:7782673..8007335hg18UCSC Ensembl
Innerchr12:7782673..8007335hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38224663
hg19224663
hg18224663
hg17224663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34893
Supporting Variants
SamplesNA12239
Known GenesCLEC4C, NANOG, NANOGNB, SLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978767
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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