A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759254



Internal ID9981399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:60265440..60451531hg38UCSC Ensembl
Innerchr4:61131158..61317249hg19UCSC Ensembl
Innerchr4:60813753..60999844hg18UCSC Ensembl
Innerchr4:60959924..61146015hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38186092
hg19186092
hg18186092
hg17186092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757937
SamplesNA07048
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)esv2759254
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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