A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23924



Internal ID9622474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86965868..87148826hg38UCSC Ensembl
Innerchr10:88725625..88908583hg19UCSC Ensembl
Innerchr10:88715605..88898563hg18UCSC Ensembl
Innerchr10:88715605..88898563hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38182959
hg19182959
hg18182959
hg17182959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758234
Supporting Variants
SamplesNA12814
Known GenesADIRF, AGAP11, FAM25A, FAM35A, GLUD1
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)essv23924
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer