A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10750



Internal ID9607837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143773822..144122231hg38UCSC Ensembl
Innerchr4:144694975..145043384hg19UCSC Ensembl
Innerchr4:144914425..145262834hg18UCSC Ensembl
Innerchr4:145052580..145400989hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38348410
hg19348410
hg18348410
hg17348410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757960
Supporting Variants
SamplesNA18523
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)essv10750
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer