A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19941



Internal ID9618048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:14857252..15260161hg38UCSC Ensembl
Innerchr7:14896877..15299786hg19UCSC Ensembl
Innerchr7:14863402..15266311hg18UCSC Ensembl
Innerchr7:14670117..15073026hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38402910
hg19402910
hg18402910
hg17402910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758104
Supporting Variants
SamplesNA12813
Known GenesAGMO
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)essv19941
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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