A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20385



Internal ID9618542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:75475179..75692843hg38UCSC Ensembl
Innerchr10:77234937..77452601hg19UCSC Ensembl
Innerchr10:76904943..77122607hg18UCSC Ensembl
Innerchr10:76904943..77122607hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38217665
hg19217665
hg18217665
hg17217665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758230, esv2758229
Supporting Variants
SamplesNA10830
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)essv20385
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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