A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5018045



Internal ID7761903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155673116..155676929hg38UCSC Ensembl
Innerchr4:156594268..156598081hg19UCSC Ensembl
Innerchr4:156813718..156817531hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg383814
hg193814
hg183814
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421932
Supporting Variants
SamplesNA19027
Known GenesGUCY1A3
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)essv5018045
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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