A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29951



Internal ID11394160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088360..46211895hg38UCSC Ensembl
Innerchr17:44165726..44289261hg19UCSC Ensembl
Innerchr17:41521544..41645038hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38123536
hg19123536
hg18123495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84190
SamplesWATSON
Known GenesKANSL1, KANSL1-AS1
MethodOligo aCGH
AnalysisThe data were analyzed using the CGH Analytics software.
PlatformAgilent-014584 Human Genome 244K CGH Microarray (Alpha Test)
Comments
ReferenceWheeler_et_al_2008
Pubmed ID18421352
Accession Number(s)esv29951
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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