A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760525



Internal ID10027888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7022144..7103970hg38UCSC Ensembl
Innerchr19:7022155..7103981hg19UCSC Ensembl
Innerchr19:6973155..7054981hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3881827
hg1981827
hg1881827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025287, essv7025288, essv7025285, essv7025286
SamplesRW_0283, RW_0033, RW_0267, RW_0171
Known GenesMBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
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)esv2760525
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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