A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979618



Internal ID12980488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53789264..53847164hg38UCSC Ensembl
Innerchr13:54363399..54421299hg19UCSC Ensembl
Innerchr13:53261400..53319300hg18UCSC Ensembl
Innerchr13:53261400..53319300hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3857901
hg1957901
hg1857901
hg1757901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34743
Supporting Variants
SamplesNA18582
Known GenesLINC00558
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979618
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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