A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9638



Internal ID9631793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99734088..100216834hg38UCSC Ensembl
Innerchr15:100274293..100757039hg19UCSC Ensembl
Innerchr15:98091816..98574562hg18UCSC Ensembl
Innerchr15:98091816..98574562hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38482747
hg19482747
hg18482747
hg17482747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758400
Supporting Variants
SamplesNA19141
Known GenesADAMTS17, DNM1P46
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv9638
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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