A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987708



Internal ID12637015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111029653..111092351hg38UCSC Ensembl
Innerchr13:111682000..111744698hg19UCSC Ensembl
Innerchr13:110480001..110542699hg18UCSC Ensembl
Innerchr13:110480001..110542699hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3862699
hg1962699
hg1862699
hg1762699
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)essv6987708
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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