A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990453



Internal ID12634705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131427059..131507059hg38UCSC Ensembl
Innerchr9:134302446..134382446hg19UCSC Ensembl
Innerchr9:133292267..133372267hg18UCSC Ensembl
Innerchr9:131332000..131412000hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3880001
hg1980001
hg1880001
hg1780001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34928
Supporting Variants
SamplesNA18967
Known GenesPOMT1, PRRC2B, SNORD62A, SNORD62B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990453
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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