A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984900



Internal ID12637014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111027652..111070652hg38UCSC Ensembl
Innerchr13:111679999..111722999hg19UCSC Ensembl
Innerchr13:110478000..110521000hg18UCSC Ensembl
Innerchr13:110478000..110521000hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3843001
hg1943001
hg1843001
hg1743001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984900
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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