A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3587214



Internal ID6711910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31231192..31233076hg38UCSC Ensembl
Innerchr17:29558210..29560094hg19UCSC Ensembl
Innerchr17:26582336..26584220hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381885
hg191885
hg181885
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001800
Supporting Variants
SamplesHuRef
Known GenesNF1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3587214
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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