A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3157



Internal ID9624593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17433671..17784021hg38UCSC Ensembl
Innerchr8:17291180..17641530hg19UCSC Ensembl
Innerchr8:17335551..17685810hg18UCSC Ensembl
Innerchr8:17335551..17685810hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38350351
hg19350351
hg18350260
hg17350260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758151
Supporting Variants
SamplesNA19012
Known GenesMTUS1, PDGFRL, SLC7A2
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)essv3157
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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