A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987538



Internal ID12977928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31159763..31280463hg38UCSC Ensembl
Innerchr13:31733900..31854600hg19UCSC Ensembl
Innerchr13:30631900..30752600hg18UCSC Ensembl
Innerchr13:30631900..30752600hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38120701
hg19120701
hg18120701
hg17120701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751142
Supporting Variants
SamplesBEC_817
Known GenesB3GALTL, HSPH1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987538
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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