A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18971



Internal ID9616970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42708784..43014743hg38UCSC Ensembl
Innerchr10:43204232..43510191hg19UCSC Ensembl
Innerchr10:42524238..42830197hg18UCSC Ensembl
Innerchr10:42524238..42830197hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38305960
hg19305960
hg18305960
hg17305960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758216
Supporting Variants
SamplesNA12005
Known GenesBMS1, MIR5100
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)essv18971
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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