A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981116



Internal ID12626153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43168764..43203164hg38UCSC Ensembl
Innerchr13:43742900..43777300hg19UCSC Ensembl
Innerchr13:42640900..42675300hg18UCSC Ensembl
Innerchr13:42640900..42675300hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3834401
hg1934401
hg1834401
hg1734401
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981116
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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