A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012383



Internal ID10338891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189480703..189530435hg38UCSC Ensembl
Innerchr4:190401857..190451589hg19UCSC Ensembl
Innerchr4:190638851..190688583hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3849733
hg1949733
hg1849733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760909
Supporting Variants
SamplesRW_0189
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)essv7012383
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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