A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5083388



Internal ID7827246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844251..140857963hg38UCSC Ensembl
Innerchr5:140223836..140237548hg19UCSC Ensembl
Innerchr5:140204020..140217732hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813713
hg1913713
hg1813713
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421858
Supporting Variants
SamplesNA19467
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)essv5083388
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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