A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24498



Internal ID9623111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105126260..105470134hg38UCSC Ensembl
Innerchr7:104766707..105110581hg19UCSC Ensembl
Innerchr7:104553943..104897817hg18UCSC Ensembl
Innerchr7:104360658..104704532hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38343875
hg19343875
hg18343875
hg17343875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758127
Supporting Variants
SamplesNA12802
Known GenesPUS7, SRPK2
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)essv24498
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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