A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759530



Internal ID9981675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:53907621..54068667hg38UCSC Ensembl
Innerchr7:53975314..54136360hg19UCSC Ensembl
Innerchr7:53942808..54103854hg18UCSC Ensembl
Innerchr7:53749523..53910569hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38161047
hg19161047
hg18161047
hg17161047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758115
SamplesNA18603
Known Genes
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)esv2759530
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