A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5076845



Internal ID8186570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71903417..71915239hg38UCSC Ensembl
Innerchr13:72477555..72489377hg19UCSC Ensembl
Innerchr13:71375556..71387378hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3811823
hg1911823
hg1811823
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422012
Supporting Variants
SamplesNA19675
Known Genes
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5076845
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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