A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569136



Internal ID18350648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178522284..178539169hg38UCSC Ensembl
Innerchr3:178240072..178256957hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3816886
hg1916886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9769024, essv9769028, essv9769021, essv9769022, essv9769035, essv9769026, essv9769031, essv9769029, essv9769020, essv9769027, essv9769032, essv9769030, essv9769019, essv9769025, essv9769033, essv9769018
Samples400987FB, 400649PS, 401517PR, 401285HN, 401487FW, 401609MB, 400712GC, 401100SJ, 400032RC, 400852WJ, 401432SB, 400082SD, 400073HT, 402062KR, 401591BE, 401728WK
Known GenesKCNMB2
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)esv3569136
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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