A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763542



Internal ID10030892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:24444903..24520409hg38UCSC Ensembl
Innerchr6:24445131..24520637hg19UCSC Ensembl
Innerchr6:24553110..24628616hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3875507
hg1975507
hg1875507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031914
SamplesSW_0159
Known GenesALDH5A1, GPLD1
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)esv2763542
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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