A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033248



Internal ID10368533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162481989..162615191hg38UCSC Ensembl
Innerchr6:162903021..163036223hg19UCSC Ensembl
Innerchr6:162823011..162956213hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38133203
hg19133203
hg18133203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763960
Supporting Variants
SamplesSW_1272
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)essv7033248
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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