A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763960



Internal ID10377996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162121447..162615191hg38UCSC Ensembl
Innerchr6:162542479..163036223hg19UCSC Ensembl
Innerchr6:162462469..162956213hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38493745
hg19493745
hg18493745
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033242, essv7033249, essv7033248, essv7033246, essv7033240, essv7033244, essv7033243, essv7033241, essv7033247
SamplesSW_0102, SW_0175, SW_1272, SW_1020, SW_0891, SW_0021, SW_1378, SW_1463, SW_1511
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)esv2763960
Frequency
Sample Size1109
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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