A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758176



Internal ID9980253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:1055347..1529128hg38UCSC Ensembl
Innerchr9:1055347..1529128hg19UCSC Ensembl
Innerchr9:1045347..1519128hg18UCSC Ensembl
Innerchr9:1045347..1519128hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38473782
hg19473782
hg18473782
hg17473782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759656
Supporting Variantsessv22494
SamplesNA11882
Known GenesDMRT2
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)esv2758176
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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