A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23857



Internal ID9954252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:126020755..126182400hg38UCSC Ensembl
Innerchr7:125660809..125822454hg19UCSC Ensembl
Innerchr7:125448045..125609690hg18UCSC Ensembl
Innerchr7:125254760..125416405hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38161646
hg19161646
hg18161646
hg17161646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758615
Supporting Variants
SamplesNA07022
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)essv23857
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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