A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571957



Internal ID18353469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88035831..88043001hg38UCSC Ensembl
Innerchr7:87665146..87672316hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg387171
hg197171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1930e212
Supporting Variantsessv9784293, essv9784294, essv9784292
Samples401556KR, 400336BG, 400041LJ
Known GenesADAM22
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3571957
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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