A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990207



Internal ID12634890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340695..131582695hg38UCSC Ensembl
Innerchr2:132098268..132340268hg19UCSC Ensembl
Innerchr2:131814738..132056738hg18UCSC Ensembl
Innerchr2:131932000..132174000hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38242001
hg19242001
hg18242001
hg17242001
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)essv6990207
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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