A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16686



Internal ID9975228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46157934..46318429hg38UCSC Ensembl
Innerchr10:47529170..47689665hg19UCSC Ensembl
Innerchr10:46999176..47159671hg18UCSC Ensembl
Innerchr10:46999176..47159671hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38160496
hg19160496
hg18160496
hg17160496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA19142
Known GenesANTXRL, ANTXRLP1
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)essv16686
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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