A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5726



Internal ID9627447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143712969..144210439hg38UCSC Ensembl
Innerchr4:144634122..145131592hg19UCSC Ensembl
Innerchr4:144853572..145351042hg18UCSC Ensembl
Innerchr4:144991727..145489197hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38497471
hg19497471
hg18497471
hg17497471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757960
Supporting Variants
SamplesNA18593
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)essv5726
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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