A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796528



Internal ID18831902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140846323..140853802hg38UCSC Ensembl
Innerchr5:140225908..140233387hg19UCSC Ensembl
Innerchr5:140206092..140213571hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387480
hg197480
hg187480
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890744
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796528
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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