A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988871



Internal ID12637098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131785913..132005401hg38UCSC Ensembl
Innerchr12:132270458..132489946hg19UCSC Ensembl
Innerchr12:130836411..131055899hg18UCSC Ensembl
Innerchr12:130936688..131156176hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38219489
hg19219489
hg18219489
hg17219489
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988871
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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