A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993192



Internal ID10016943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61122968..61133433hg38UCSC Ensembl
Innerchr8:62035527..62045992hg19UCSC Ensembl
Innerchr8:62198081..62208546hg18UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg3810466
hg1910466
hg1810466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761428
Supporting Variants
SamplesSW_1079
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)essv6993192
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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