A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992595



Internal ID10364530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12358500..12470324hg38UCSC Ensembl
Innerchr8:12216009..12327833hg19UCSC Ensembl
Innerchr8:12260380..12372204hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38111825
hg19111825
hg18111825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_1108
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
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)essv6992595
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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