A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12474



Internal ID9609752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160516284..160658766hg38UCSC Ensembl
Innerchr6:160937316..161079798hg19UCSC Ensembl
Innerchr6:160857306..160999788hg18UCSC Ensembl
Innerchr6:160907727..161050209hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38142483
hg19142483
hg18142483
hg17142483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758089
Supporting Variants
SamplesNA19207
Known GenesLPA
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)essv12474
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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