A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5115983



Internal ID8167866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56675071..56678865hg38UCSC Ensembl
Innerchr4:57541237..57545031hg19UCSC Ensembl
Innerchr4:57235994..57239788hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383795
hg193795
hg183795
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421872
Supporting Variants
SamplesNA19199
Known GenesHOPX
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)essv5115983
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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