A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758237



Internal ID9633696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100392093..100619878hg38UCSC Ensembl
Innerchr10:102151850..102379635hg19UCSC Ensembl
Innerchr10:102141840..102369625hg18UCSC Ensembl
Innerchr10:102141840..102369625hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38227786
hg19227786
hg18227786
hg17227786
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759779
Supporting Variantsessv14536, essv24916
SamplesNA19202, NA06994
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)esv2758237
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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