A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995766



Internal ID6731714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236713655..236715001hg38UCSC Ensembl
Innerchr1:236876955..236878301hg19UCSC Ensembl
Innerchr1:234943578..234944924hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586118
SamplesHuRef
Known GenesACTN2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995766
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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