A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016531



Internal ID10003864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18996281..19001311hg38UCSC Ensembl
Innerchr8:18853791..18858821hg19UCSC Ensembl
Innerchr8:18898071..18903101hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385031
hg195031
hg185031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761214
Supporting Variants
SamplesRW_0644
Known GenesPSD3
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)essv7016531
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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