A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761025



Internal ID10377332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:135953706..135974771hg38UCSC Ensembl
Innerchr6:136274844..136295909hg19UCSC Ensembl
Innerchr6:136316537..136337602hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3821066
hg1921066
hg1821066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014273, essv7014272
SamplesRW_0567, RW_0325
Known GenesMIR548H4, PDE7B
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)esv2761025
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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