A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5102314



Internal ID7846172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:157808285..157810222hg38UCSC Ensembl
Innerchr4:158729437..158731374hg19UCSC Ensembl
Innerchr4:158948887..158950824hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421450
Supporting Variants
SamplesNA21693
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)essv5102314
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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