A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572076



Internal ID18700274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112481548..112489180hg38UCSC Ensembl
Innerchr7:112121603..112129235hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg387633
hg197633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1950e212
Supporting Variantsessv9784640, essv9784647, essv9784643, essv9784658, essv9784652, essv9784646, essv9784649, essv9784639, essv9784659, essv9784654, essv9784653, essv9784655, essv9784638, essv9784651, essv9784648, essv9784650, essv9784642, essv9784641, essv9784657
Samples400934LA, 400379BB, 401687LR, 400843FL, 400738WM, 401357MH, 401526WB, 401475MK, 400050RL, 400681MC, 401075MN, 400371GA, 400135DR, 400430KV, 400671PP, 402008MC, 400177SJ, 400106PC, 400645KM
Known GenesLSMEM1
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)esv3572076
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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