A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758083



Internal ID9980160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:137551188..137599844hg38UCSC Ensembl
Innerchr6:137872325..137920981hg19UCSC Ensembl
Innerchr6:137914018..137962674hg18UCSC Ensembl
Innerchr6:137914018..137962674hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3848657
hg1948657
hg1848657
hg1748657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759474
Supporting Variantsessv4861
SamplesNA18540
Known Genes
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)esv2758083
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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