A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579078



Internal ID18707276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:96077054..96082358hg38UCSC Ensembl
Innerchr10:97836811..97842115hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg385305
hg195305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv275e212
Supporting Variantsessv9794673, essv9794670, essv9794680, essv9794664, essv9794682, essv9794666, essv9794674, essv9794679, essv9794675, essv9794676, essv9794668, essv9794665, essv9794677, essv9794669, essv9794671, essv9794681, essv9794672
Samples401636WR, 400599CP, 400984LD, 401733CG, 400225CJ, 401582GG, 400486LS, 401038LN, 400729HC, 400375KA, 401968HL, 401874DJ, 401359HF, 401844ZD, 401847RK, 401858TP, 400833BB
Known GenesENTPD1-AS1
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)esv3579078
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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