A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993170



Internal ID10371100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50969223..51288410hg38UCSC Ensembl
Innerchr8:51881783..52200970hg19UCSC Ensembl
Innerchr8:52044336..52363523hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38319188
hg19319188
hg18319188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764079
Supporting Variants
SamplesSW_1389
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)essv6993170
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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