A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5083184



Internal ID8152492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:42694649..42707404hg38UCSC Ensembl
Innerchr4:42696666..42709421hg19UCSC Ensembl
Innerchr4:42391423..42404178hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3812756
hg1912756
hg1812756
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421365
Supporting Variants
SamplesNA19035
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)essv5083184
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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