A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018993



Internal ID9997745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133537633..133769379hg38UCSC Ensembl
Innerchr10:135351137..135506704hg19UCSC Ensembl
Innerchr10:135201127..135356694hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38231747
hg19155568
hg18155568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760130
Supporting Variants
SamplesRW_0335
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SPRNP1, SYCE1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7018993
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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