A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984951



Internal ID12637110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131776139..131988257hg38UCSC Ensembl
Innerchr12:132260684..132472802hg19UCSC Ensembl
Innerchr12:130826637..131038755hg18UCSC Ensembl
Innerchr12:130926914..131139032hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38212119
hg19212119
hg18212119
hg17212119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751042
Supporting Variants
SamplesSPC_20
Known GenesEP400, MMP17, PUS1, SFSWAP, ULK1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984951
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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