A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16117



Internal ID9613800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72730822..72907861hg38UCSC Ensembl
Innerchr7:72195790..72378398hg19UCSC Ensembl
Innerchr7:71833726..72016334hg18UCSC Ensembl
Innerchr7:71640441..71823049hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38177040
hg19182609
hg18182609
hg17182609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758612
Supporting Variants
SamplesNA19100
Known GenesPOM121, SBDSP1, SPDYE7P, TYW1B
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)essv16117
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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