A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981117



Internal ID12626152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43171364..43207664hg38UCSC Ensembl
Innerchr13:43745500..43781800hg19UCSC Ensembl
Innerchr13:42643500..42679800hg18UCSC Ensembl
Innerchr13:42643500..42679800hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3836301
hg1936301
hg1836301
hg1736301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751146
Supporting Variants
SamplesBEC_354
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981117
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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