A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5072145



Internal ID8145115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5900408..5911303hg38UCSC Ensembl
Innerchr7:5940039..5950934hg19UCSC Ensembl
Innerchr7:5906565..5917460hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3810896
hg1910896
hg1810896
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421482
Supporting Variants
SamplesNA18943
Known GenesCCZ1
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)essv5072145
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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