A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780693



Internal ID18835309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66809344..66828380hg38UCSC Ensembl
Innerchr1:67275027..67294063hg19UCSC Ensembl
Innerchr1:67047615..67066651hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3819037
hg1919037
hg1819037
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893634
Supporting Variants
Samples
Known GenesWDR78
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780693
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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