A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569611



Internal ID18697809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:95027554..95032168hg38UCSC Ensembl
Innerchr4:95948705..95953319hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384615
hg194615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1514e212
Supporting Variantsessv9772221, essv9772214, essv9772230, essv9772215, essv9772232, essv9772235, essv9772228, essv9772181, essv9772193, essv9772192, essv9772184, essv9772190, essv9772229, essv9772236, essv9772211, essv9772213, essv9772197, essv9772206, essv9772227, essv9772195, essv9772233, essv9772191, essv9772231, essv9772194, essv9772198, essv9772208, essv9772205, essv9772220, essv9772204, essv9772185, essv9772225, essv9772222, essv9772217, essv9772183, essv9772207, essv9772189, essv9772182, essv9772186, essv9772202, essv9772196, essv9772219, essv9772209, essv9772224, essv9772203, essv9772218, essv9772210, essv9772226, essv9772216, essv9772187
Samples400145BL, 401465TB, 400984LD, 400618GC, 400569WC, 400634MP, 401285HN, 400313DF, 400230TB, 401302LJ, 400899NK, 401093VL, 400277LM, 400337HG, 400688FL, 400320RN, 400749VW, 401766MR, 401155ML, 400817MB, 400733SW, 401377MA, 400793BR, 401448BJ, 401726LW, 401691HA, 400870KC, 401813DN, 402054BD, 400014SL, 401919MD, 401795SP, 400721DJ, 401334DH, 400728PB, 401608GE, 401365DJ, 400845ML, 401413RG, 400769SL, 401056TJ, 401358VP, 400106PC, 400108BJ, 400084DM, 401836SI, 400300SD, 400243CK, 401395OP
Known GenesBMPR1B
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)esv3569611
Frequency
Sample Size873
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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