A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008601



Internal ID10347301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204478736..204484001hg38UCSC Ensembl
Innerchr2:205343459..205348724hg19UCSC Ensembl
Innerchr2:205051704..205056969hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg385266
hg195266
hg185266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760586
Supporting Variants
SamplesRW_0559
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)essv7008601
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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