A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031385



Internal ID10364101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113580701..113610295hg38UCSC Ensembl
Innerchr5:112916398..112945992hg19UCSC Ensembl
Innerchr5:112944297..112973891hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3829595
hg1929595
hg1829595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763910
Supporting Variants
SamplesSW_1095
Known GenesYTHDC2
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)essv7031385
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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