A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029773



Internal ID10359299
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 StatusS
Merged Variantsesv2763801
Supporting Variants
SamplesSW_0760
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)essv7029773
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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