A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987123



Internal ID12637096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131776224..131988225hg38UCSC Ensembl
Innerchr12:132260769..132472770hg19UCSC Ensembl
Innerchr12:130826722..131038723hg18UCSC Ensembl
Innerchr12:130926999..131139000hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38212002
hg19212002
hg18212002
hg17212002
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)essv6987123
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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