A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016012



Internal ID9990854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7981021..8116101hg38UCSC Ensembl
Innerchr8:7838543..7973623hg19UCSC Ensembl
Innerchr8:7875953..8011033hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38135081
hg19135081
hg18135081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761169
Supporting Variants
SamplesRW_0158
Known GenesDEFB109P1B, FAM66E, MIR548I3
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)essv7016012
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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