A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891369



Internal ID18839079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18564701..19388208hg38UCSC Ensembl
Outerchr8:18564701..19388208hg38UCSC Ensembl
Innerchr8:18422211..19245719hg19UCSC Ensembl
Outerchr8:18422211..19245719hg19UCSC Ensembl
Innerchr8:18466491..19289999hg18UCSC Ensembl
Outerchr8:18466491..19289999hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38823508
hg19823509
hg18823509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789668
Samples
Known GenesLOC100128993, PSD3, SH2D4A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891369
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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