A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760682



Internal ID10028044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50493794..50535631hg38UCSC Ensembl
Innerchr20:49110331..49152168hg19UCSC Ensembl
Innerchr20:48543738..48585575hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3841838
hg1941838
hg1841838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026327, essv7026326, essv7026328
SamplesRW_0650, RW_0645, RW_0573
Known GenesPTPN1
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)esv2760682
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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