A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761168



Internal ID10377475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72410693..72429144hg38UCSC Ensembl
Innerchr8:73322928..73341379hg19UCSC Ensembl
Innerchr8:73485482..73503933hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3818452
hg1918452
hg1818452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016949, essv7016952, essv7016950, essv7016951, essv7016953
SamplesRW_0134, RW_0570, RW_0269, RW_0021, RW_0119
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)esv2761168
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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