A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764119



Internal ID10378155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100970966..100983647hg38UCSC Ensembl
Innerchr8:101983194..101995875hg19UCSC Ensembl
Innerchr8:102052370..102065051hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3812682
hg1912682
hg1812682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv160e203
Supporting Variantsessv6993268, essv6993266
SamplesSW_1144, SW_1357
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)esv2764119
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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