A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762583



Internal ID10375381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:23269732..23288316hg38UCSC Ensembl
Innerchr6:23269960..23288544hg19UCSC Ensembl
Innerchr6:23377939..23396523hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3818585
hg1918585
hg1818585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013538
SamplesRW_0640
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)esv2762583
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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