A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5070940



Internal ID7814798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46755299..46808099hg38UCSC Ensembl
Innerchr3:46796789..46849589hg19UCSC Ensembl
Innerchr3:46771793..46824593hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3852801
hg1952801
hg1852801
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421845
Supporting Variants
SamplesNA20508
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)essv5070940
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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