A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012652



Internal ID10000398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17481490..17701447hg38UCSC Ensembl
Innerchr5:17481599..17701556hg19UCSC Ensembl
Innerchr5:17534599..17734268hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38219958
hg19219958
hg18199670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760941
Supporting Variants
SamplesRW_0552
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)essv7012652
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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