A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11276



Internal ID9608421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6986421..7268174hg38UCSC Ensembl
Innerchr4:6988148..7269901hg19UCSC Ensembl
Innerchr4:7039049..7320802hg18UCSC Ensembl
Innerchr4:7106220..7387973hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38281754
hg19281754
hg18281754
hg17281754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757919
Supporting Variants
SamplesNA19204
Known GenesCCDC96, FLJ36777, GRPEL1, LOC100129931, SORCS2, TADA2B, TBC1D14
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)essv11276
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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