A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984238



Internal ID12977914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31159808..31235803hg38UCSC Ensembl
Innerchr13:31733945..31809940hg19UCSC Ensembl
Innerchr13:30631945..30707940hg18UCSC Ensembl
Innerchr13:30631945..30707940hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3875996
hg1975996
hg1875996
hg1775996
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)essv6984238
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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