A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984901



Internal ID12637003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111029652..111092652hg38UCSC Ensembl
Innerchr13:111681999..111744999hg19UCSC Ensembl
Innerchr13:110480000..110543000hg18UCSC Ensembl
Innerchr13:110480000..110543000hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3863001
hg1963001
hg1863001
hg1763001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751129
Supporting Variants
SamplesSPC_192
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984901
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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