A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582510



Internal ID18710708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7736431..7745876hg38UCSC Ensembl
Innerchr17:7639749..7649194hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg389446
hg199446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv886e212
Supporting Variantsessv9812627, essv9812630, essv9812624, essv9812626, essv9812639, essv9812628, essv9812618, essv9812619, essv9812629, essv9812634, essv9812614, essv9812636, essv9812617, essv9812631, essv9812646, essv9812635, essv9812615, essv9812620, essv9812637, essv9812625, essv9812641, essv9812647, essv9812621, essv9812643, essv9812638, essv9812616, essv9812632, essv9812623, essv9812642, essv9812640
Samples400439IM, 401275SJ, 400429YF, 400629BM, 401556KR, 400425SL, 400227MM, 401263HS, 401239PR, 402065BG, 400478WE, 401791FG, 400002HK, 401873BK, 401589HP, 401278DM, 400043HC, 401825TH, 401930GD, 400123WN, 400006DK, 401200BD, 400136DM, 401057SS, 400732MA, 401763SG, 400525MR, 401969DR, 400300SD, 400243CK
Known GenesDNAH2
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)esv3582510
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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