A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8770



Internal ID9630829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143944335..144122231hg38UCSC Ensembl
Innerchr4:144865488..145043384hg19UCSC Ensembl
Innerchr4:145084938..145262834hg18UCSC Ensembl
Innerchr4:145223093..145400989hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38177897
hg19177897
hg18177897
hg17177897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757960
Supporting Variants
SamplesNA19092
Known GenesGYPA, GYPB
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)essv8770
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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