A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12651



Internal ID9609949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128338850..128602337hg38UCSC Ensembl
Innerchr3:128057693..128321180hg19UCSC Ensembl
Innerchr3:129540383..129803870hg18UCSC Ensembl
Innerchr3:129540391..129803878hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38263488
hg19263488
hg18263488
hg17263488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757888
Supporting Variants
SamplesNA18500
Known GenesC3orf27, DNAJB8, DNAJB8-AS1, EEFSEC, GATA2, LOC90246
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)essv12651
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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