A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763933



Internal ID10377969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102127485..102195625hg38UCSC Ensembl
Innerchr5:101463189..101531329hg19UCSC Ensembl
Innerchr5:101491088..101559228hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3868141
hg1968141
hg1868141
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031321, essv7031322
SamplesSW_1306, SW_1292
Known Genes
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)esv2763933
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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