A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759497



Internal ID9634956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170272663..170700831hg38UCSC Ensembl
Innerchr6:170581751..171009919hg19UCSC Ensembl
Innerchr6:170423676..170851844hg18UCSC Ensembl
Innerchr6:170499383..170927551hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38428169
hg19428169
hg18428169
hg17428169
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758097, esv2758098
SamplesNA11829, NA12236, NA19192, NA12005, NA07019, NA19159, NA18991, NA12264, NA19240, NA19093, NA18506, NA12006, NA12154, NA18622
Known GenesDLL1, FAM120B, FLJ38122, MIR4644, PDCD2, PSMB1, TBP
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)esv2759497
Frequency
Sample Size270
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


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