A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982190



Internal ID12973343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18488179..18737640hg38UCSC Ensembl
Innerchr13:19062319..19311780hg19UCSC Ensembl
Innerchr13:17960319..18209780hg18UCSC Ensembl
Innerchr13:17960319..18209780hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38249462
hg19249462
hg18249462
hg17249462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751130
Supporting Variants
SamplesBEC_401
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982190
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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