A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6362



Internal ID9628154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10056602..10272155hg38UCSC Ensembl
Innerchr4:10058226..10273779hg19UCSC Ensembl
Innerchr4:9667324..9882877hg18UCSC Ensembl
Innerchr4:9734495..9950048hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38215554
hg19215554
hg18215554
hg17215554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757920
Supporting Variants
SamplesNA18609
Known GenesMIR3138, WDR1
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)essv6362
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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