A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760615



Internal ID10027977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233704384..233731587hg38UCSC Ensembl
Innerchr2:234613030..234640233hg19UCSC Ensembl
Innerchr2:234277769..234304972hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3827204
hg1927204
hg1827204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008693, essv7008698, essv7008699, essv7008694, essv7008696, essv7008697, essv7008695
SamplesRW_0256, RW_0091, RW_0358, RW_0555, RW_0120, RW_0139, RW_0271
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)esv2760615
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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