A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992221



Internal ID10020042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6934037..6940771hg38UCSC Ensembl
Innerchr8:6791559..6798293hg19UCSC Ensembl
Innerchr8:6778969..6785703hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386735
hg196735
hg186735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764078
Supporting Variants
SamplesSW_1194
Known GenesDEFA4
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)essv6992221
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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