A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5056737



Internal ID8158161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52477391..52586099hg38UCSC Ensembl
Innerchr13:53051526..53160234hg19UCSC Ensembl
Innerchr13:51949527..52058235hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38108709
hg19108709
hg18108709
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421964
Supporting Variants
SamplesNA19099
Known GenesTPTE2P3
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)essv5056737
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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