A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24130



Internal ID9622704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13709..203581hg38UCSC Ensembl
Innerchr7:13709..203581hg19UCSC Ensembl
Innerchr7:106471..298664hg18UCSC Ensembl
Innerchr7:106471..298664hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38189873
hg19189873
hg18192194
hg17192194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758607
Supporting Variants
SamplesNA10847
Known GenesFAM20C, LOC100507642
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)essv24130
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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