A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762114



Internal ID10029464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45260287..45647830hg38UCSC Ensembl
Innerchr21:46680202..47067744hg19UCSC Ensembl
Innerchr21:45504630..45892172hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38387544
hg19387543
hg18387543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004416
SamplesSW_0003
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316, LOC642852, MIR6815, POFUT2, SLC19A1
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)esv2762114
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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