A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893634



Internal ID19184454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66816506..66828380hg38UCSC Ensembl
Outerchr1:66809344..66828460hg38UCSC Ensembl
Innerchr1:67282189..67294063hg19UCSC Ensembl
Outerchr1:67275027..67294143hg19UCSC Ensembl
Innerchr1:67054777..67066651hg18UCSC Ensembl
Outerchr1:67047615..67066731hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3819117
hg1919117
hg1819117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25798486, essv25780693
Samples
Known GenesWDR78
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893634
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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