A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789668



Internal ID18827201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18564701..19388208hg38UCSC Ensembl
Innerchr8:18422211..19245719hg19UCSC Ensembl
Innerchr8:18466491..19289999hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38823508
hg19823509
hg18823509
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891369
Supporting Variants
Samples
Known GenesLOC100128993, PSD3, SH2D4A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=396
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789668
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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