A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013379



Internal ID10332713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176050117..176211627hg38UCSC Ensembl
Innerchr5:175477120..175638630hg19UCSC Ensembl
Innerchr5:175409726..175571236hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38161511
hg19161511
hg18161511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760985
Supporting Variants
SamplesRW_0028
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201
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)essv7013379
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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