A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013202



Internal ID10347391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:152083556..152206490hg38UCSC Ensembl
Innerchr5:151463117..151586051hg19UCSC Ensembl
Innerchr5:151443310..151566244hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38122935
hg19122935
hg18122935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760935
Supporting Variants
SamplesRW_0562
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)essv7013202
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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