A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018874



Internal ID10344138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:121011150..121012073hg38UCSC Ensembl
Innerchr10:122770663..122771586hg19UCSC Ensembl
Innerchr10:122760653..122761576hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg38924
hg19924
hg18924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760156
Supporting Variants
SamplesRW_0327
Known GenesMIR5694
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)essv7018874
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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