A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7421



Internal ID9629331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94429500..94608508hg38UCSC Ensembl
Innerchr5:93765205..93944213hg19UCSC Ensembl
Innerchr5:93790961..93969969hg18UCSC Ensembl
Innerchr5:93790961..93969969hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38179009
hg19179009
hg18179009
hg17179009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758002
Supporting Variants
SamplesNA18623
Known GenesKIAA0825
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)essv7421
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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