A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891371



Internal ID18839081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19468572..19704486hg38UCSC Ensembl
Outerchr8:19468572..19704486hg38UCSC Ensembl
Innerchr8:19326083..19561997hg19UCSC Ensembl
Outerchr8:19326083..19561997hg19UCSC Ensembl
Innerchr8:19370363..19606277hg18UCSC Ensembl
Outerchr8:19370363..19606277hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38235915
hg19235915
hg18235915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791186
Samples
Known GenesCSGALNACT1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891371
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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