A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5015703



Internal ID7759561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732024..19955706hg38UCSC Ensembl
Innerchr14:20200183..20423865hg19UCSC Ensembl
Innerchr14:19270023..19493705hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38223683
hg19223683
hg18223683
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421752
Supporting Variants
SamplesNA12818
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)essv5015703
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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