A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5040455



Internal ID8196942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:110788876..110792438hg38UCSC Ensembl
Innerchr7:110428932..110432494hg19UCSC Ensembl
Innerchr7:110216168..110219730hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg383563
hg193563
hg183563
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421473
Supporting Variants
SamplesNA19908
Known GenesIMMP2L
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)essv5040455
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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