A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5072225



Internal ID7816083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188703229..188714602hg38UCSC Ensembl
Innerchr2:189567956..189579329hg19UCSC Ensembl
Innerchr2:189276201..189287574hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3811374
hg1911374
hg1811374
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421956
Supporting Variants
SamplesNA19027
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)essv5072225
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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