A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763767



Internal ID10031117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142102103..142382712hg38UCSC Ensembl
Innerchr3:141820945..142101554hg19UCSC Ensembl
Innerchr3:143303635..143584244hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38280610
hg19280610
hg18280610
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027867, essv7027868, essv7027866, essv7027865
SamplesSW_1571, SW_1257, SW_0352, SW_1126
Known GenesGK5, TFDP2, XRN1
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)esv2763767
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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