A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3587029



Internal ID6711725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39972735..39973769hg38UCSC Ensembl
Innerchr17:38128988..38130022hg19UCSC Ensembl
Innerchr17:35382514..35383548hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007042
Supporting Variants
SamplesHuRef
Known GenesGSDMA
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3587029
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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