A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763053



Internal ID10375733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110498568..110499844hg38UCSC Ensembl
Innerchr13:111150915..111152191hg19UCSC Ensembl
Innerchr13:109948916..109950192hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381277
hg191277
hg181277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021824
SamplesRW_0124
Known GenesCOL4A2
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)esv2763053
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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