A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7182



Internal ID9629065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86866859..87355835hg38UCSC Ensembl
Innerchr10:88626616..89115592hg19UCSC Ensembl
Innerchr10:88616596..89105572hg18UCSC Ensembl
Innerchr10:88616596..89105572hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38488977
hg19488977
hg18488977
hg17488977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758234
Supporting Variants
SamplesNA18547
Known GenesADIRF, AGAP11, BMPR1A, FAM25A, FAM35A, GLUD1, LOC439994, MMRN2, NUTM2A, NUTM2A-AS1, SNCG
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)essv7182
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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