A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5107232



Internal ID7851090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150955199..150963161hg38UCSC Ensembl
Innerchr4:151876351..151884313hg19UCSC Ensembl
Innerchr4:152095801..152103763hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg387963
hg197963
hg187963
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421568
Supporting Variants
SamplesNA21686
Known GenesLRBA
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)essv5107232
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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