A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757919



Internal ID9633378
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 StatusM
Merged Variantsesv2759221
Supporting Variantsessv14158, essv13695, essv17079, essv8215, essv16696, essv15262, essv11782, essv11276, essv11576
SamplesNA19204, NA18504, NA19119, NA19172, NA19142, NA19094, NA19140, NA19173, NA19116
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)esv2757919
Frequency
Sample Size270
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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