A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13076



Internal ID9610421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143735009..144122231hg38UCSC Ensembl
Innerchr4:144656162..145043384hg19UCSC Ensembl
Innerchr4:144875612..145262834hg18UCSC Ensembl
Innerchr4:145013767..145400989hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38387223
hg19387223
hg18387223
hg17387223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757960
Supporting Variants
SamplesNA18852
Known GenesGYPA, GYPB, GYPE
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)essv13076
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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