A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986555



Internal ID12634887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340569..131583053hg38UCSC Ensembl
Innerchr2:132098142..132340626hg19UCSC Ensembl
Innerchr2:131814612..132057096hg18UCSC Ensembl
Innerchr2:131931874..132174358hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38242485
hg19242485
hg18242485
hg17242485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34704
Supporting Variants
SamplesNA18976
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986555
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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