A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24916



Internal ID9623576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100392093..100620878hg38UCSC Ensembl
Innerchr10:102151850..102380635hg19UCSC Ensembl
Innerchr10:102141840..102370625hg18UCSC Ensembl
Innerchr10:102141840..102370625hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38228786
hg19228786
hg18228786
hg17228786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758237, esv2758238
Supporting Variants
SamplesNA06994
Known GenesHIF1AN, NDUFB8, SEC31B, WNT8B
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)essv24916
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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