A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763801



Internal ID10377837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98173741..98492702hg38UCSC Ensembl
Innerchr4:99094892..99413853hg19UCSC Ensembl
Innerchr4:99313915..99632876hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38318962
hg19318962
hg18318962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029773, essv7029774
SamplesSW_0760, SW_1156
Known GenesRAP1GDS1, TSPAN5
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)esv2763801
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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