A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013160



Internal ID9991654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150576939..150599100hg38UCSC Ensembl
Innerchr5:149956501..149978662hg19UCSC Ensembl
Innerchr5:149936694..149958855hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3822162
hg1922162
hg1822162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762557
Supporting Variants
SamplesRW_0178
Known Genes
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)essv7013160
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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