A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5152380



Internal ID8211863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136810..35142319hg38UCSC Ensembl
Innerchr14:35606016..35611525hg19UCSC Ensembl
Innerchr14:34675767..34681276hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg385510
hg195510
hg185510
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421627
Supporting Variants
SamplesNA20768
Known GenesKIAA0391
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)essv5152380
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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