A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758608



Internal ID9980685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:9034019..9192559hg38UCSC Ensembl
Innerchr7:9073649..9232189hg19UCSC Ensembl
Innerchr7:9040174..9198714hg18UCSC Ensembl
Innerchr7:8846889..9005429hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38158541
hg19158541
hg18158541
hg17158541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759507
Supporting Variantsessv23691, essv18626
SamplesNA10863, NA12234
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)esv2758608
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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