A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5996



Internal ID9627746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69778293..70318715hg38UCSC Ensembl
Innerchr5:69074120..69614542hg19UCSC Ensembl
Innerchr5:69109876..69650298hg18UCSC Ensembl
Innerchr5:69109876..69650298hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38540423
hg19540423
hg18540423
hg17540423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757998
Supporting Variants
SamplesNA18571
Known GenesGUSBP9, SERF1A, SERF1B, SMA4, SMN1, SMN2
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)essv5996
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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