A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982986



Internal ID12974629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18640113..18740439hg38UCSC Ensembl
Innerchr13:19214253..19314579hg19UCSC Ensembl
Innerchr13:18112253..18212579hg18UCSC Ensembl
Innerchr13:18112253..18212579hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38100327
hg19100327
hg18100327
hg17100327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751131
Supporting Variants
SamplesBEC_531
Known GenesLINC00417
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982986
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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