A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759518



Internal ID9634977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22715965..22881291hg38UCSC Ensembl
Innerchr7:22755584..22920910hg19UCSC Ensembl
Innerchr7:22722109..22887435hg18UCSC Ensembl
Innerchr7:22528824..22694150hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38165327
hg19165327
hg18165327
hg17165327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758609
SamplesNA06993
Known GenesIL6, SNORD93, TOMM7
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)esv2759518
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