A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4124



Internal ID9625668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87885744..88080126hg38UCSC Ensembl
Innerchr16:87919350..88113732hg19UCSC Ensembl
Innerchr16:86476851..86671233hg18UCSC Ensembl
Innerchr16:86476851..86671233hg17UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38194383
hg19194383
hg18194383
hg17194383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758435
Supporting Variants
SamplesNA18555
Known GenesBANP, CA5A
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)essv4124
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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