A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759510



Internal ID9981655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11887613..12069793hg38UCSC Ensembl
Innerchr7:11927239..12109419hg19UCSC Ensembl
Innerchr7:11893764..12075944hg18UCSC Ensembl
Innerchr7:11700479..11882659hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38182181
hg19182181
hg18182181
hg17182181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758103
SamplesNA19003
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)esv2759510
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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