A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23044



Internal ID9960428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22009958..22166652hg38UCSC Ensembl
Innerchr4:22011581..22168275hg19UCSC Ensembl
Innerchr4:21620679..21777373hg18UCSC Ensembl
Innerchr4:21687850..21844544hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38156695
hg19156695
hg18156695
hg17156695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757925
Supporting Variants
SamplesNA12812
Known Genes
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)essv23044
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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