A curated catalogue of human genomic structural variation




Variant Details

Variant: essv80



Internal ID9971654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65515626..65606124hg38UCSC Ensembl
Innerchr7:64980539..65071037hg19UCSC Ensembl
Innerchr7:64617974..64708472hg18UCSC Ensembl
Innerchr7:64424689..64515187hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3890499
hg1990499
hg1890499
hg1790499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758117
Supporting Variants
SamplesNA18991
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)essv80
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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