A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763775



Internal ID10031125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196727069..197015419hg38UCSC Ensembl
Innerchr3:196453940..196742290hg19UCSC Ensembl
Innerchr3:197938337..198226687hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38288351
hg19288351
hg18288351
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028509, essv7028510
SamplesSW_1092, SW_1397
Known GenesMFI2, MFI2-AS1, NCBP2, NCBP2-AS2, PAK2, PIGX, PIGZ, SENP5
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)esv2763775
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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