A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761026



Internal ID10377333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:257353..379015hg38UCSC Ensembl
Innerchr6:257353..379015hg19UCSC Ensembl
Innerchr6:202353..324015hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38121663
hg19121663
hg18121663
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e203
Supporting Variantsessv7013501, essv7013497, essv7013496, essv7013498, essv7013494, essv7013504, essv7013499, essv7013503, essv7013502, essv7013495
SamplesRW_0520, RW_0090, RW_0121, RW_0185, RW_0175, RW_0667, RW_0523, RW_0663, RW_0048, RW_0072
Known GenesDUSP22
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)esv2761026
Frequency
Sample Size1109
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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