A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797467



Internal ID18834531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140846323..140857963hg38UCSC Ensembl
Innerchr5:140225908..140237548hg19UCSC Ensembl
Innerchr5:140206092..140217732hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3811641
hg1911641
hg1811641
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890744
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797467
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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