A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990297



Internal ID12979277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31866941..31909054hg38UCSC Ensembl
Innerchr12:32019875..32061988hg19UCSC Ensembl
Innerchr12:31911142..31953255hg18UCSC Ensembl
Innerchr12:31911142..31953255hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3842114
hg1942114
hg1842114
hg1742114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34737
Supporting Variants
SamplesNA12753
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990297
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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