A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19749



Internal ID9617834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86965868..87355835hg38UCSC Ensembl
Innerchr10:88725625..89115592hg19UCSC Ensembl
Innerchr10:88715605..89105572hg18UCSC Ensembl
Innerchr10:88715605..89105572hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38389968
hg19389968
hg18389968
hg17389968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758234
Supporting Variants
SamplesNA10835
Known GenesADIRF, AGAP11, FAM25A, FAM35A, GLUD1, LOC439994, NUTM2A, NUTM2A-AS1
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)essv19749
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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