A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940



Internal ID9628796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95896002..96204729hg38UCSC Ensembl
Innerchr5:95231706..95540433hg19UCSC Ensembl
Innerchr5:95257462..95566189hg18UCSC Ensembl
Innerchr5:95257462..95566189hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38308728
hg19308728
hg18308728
hg17308728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758003
Supporting Variants
SamplesNA18582
Known GenesELL2, MIR583
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)essv6940
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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