A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10659



Internal ID9607735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70773219..71283080hg38UCSC Ensembl
Innerchr16:70807122..71316983hg19UCSC Ensembl
Innerchr16:69364623..69874484hg18UCSC Ensembl
Innerchr16:69364623..69874484hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38509862
hg19509862
hg18509862
hg17509862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758429
Supporting Variants
SamplesNA18855
Known GenesCMTR2, HYDIN, HYDIN2, VAC14, VAC14-AS1
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)essv10659
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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