A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20041



Internal ID9618161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89075307..89257729hg38UCSC Ensembl
Innerchr10:90835064..91017486hg19UCSC Ensembl
Innerchr10:90825044..91007466hg18UCSC Ensembl
Innerchr10:90825044..91007466hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38182423
hg19182423
hg18182423
hg17182423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758235
Supporting Variants
SamplesNA07048
Known GenesCH25H, LIPA
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)essv20041
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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