A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993404



Internal ID10369258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127612640..127656124hg38UCSC Ensembl
Innerchr8:128624885..128668369hg19UCSC Ensembl
Innerchr8:128694067..128737551hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3843485
hg1943485
hg1843485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761469
Supporting Variants
SamplesSW_1296
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)essv6993404
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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