A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013393



Internal ID10341241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176126245..176256449hg38UCSC Ensembl
Innerchr5:175553248..175683452hg19UCSC Ensembl
Innerchr5:175485854..175616058hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38130205
hg19130205
hg18130205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760985
Supporting Variants
SamplesRW_0238
Known GenesLOC643201, SIMC1
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)essv7013393
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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