A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985481



Internal ID12626148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43168728..43216777hg38UCSC Ensembl
Innerchr13:43742864..43790913hg19UCSC Ensembl
Innerchr13:42640864..42688913hg18UCSC Ensembl
Innerchr13:42640864..42688913hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3848050
hg1948050
hg1848050
hg1748050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751146
Supporting Variants
SamplesBEC_354
Known GenesENOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985481
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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