A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758657



Internal ID9634116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75385716..75543073hg38UCSC Ensembl
Innerchr16:75419614..75576971hg19UCSC Ensembl
Innerchr16:73977115..74134472hg18UCSC Ensembl
Innerchr16:73977115..74134472hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38157358
hg19157358
hg18157358
hg17157358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758432
SamplesNA19194, NA19101
Known GenesCFDP1, CHST5, CHST6, TMEM170A, TMEM231
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)esv2758657
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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