A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761064



Internal ID10028426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162288916..162335973hg38UCSC Ensembl
Innerchr6:162709948..162757005hg19UCSC Ensembl
Innerchr6:162629938..162676995hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3847058
hg1947058
hg1847058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014349, essv7014351, essv7014353, essv7014350, essv7014357, essv7014352, essv7014355, essv7014359, essv7014348, essv7014358, essv7014354
SamplesRW_0345, RW_0205, RW_0226, RW_0309, RW_0246, RW_0548, RW_0112, RW_0575, RW_0197, RW_0129, RW_0238
Known GenesPARK2
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)esv2761064
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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