A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759231



Internal ID9981376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:21871581..21978936hg38UCSC Ensembl
Innerchr4:21873204..21980559hg19UCSC Ensembl
Innerchr4:21482302..21589657hg18UCSC Ensembl
Innerchr4:21549473..21656828hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38107356
hg19107356
hg18107356
hg17107356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757924
SamplesNA19193
Known GenesKCNIP4
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)esv2759231
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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