A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763228



Internal ID10030578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247246..31651719hg38UCSC Ensembl
Innerchr20:29835049..30239522hg19UCSC Ensembl
Innerchr20:29298710..29703183hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38404474
hg19404474
hg18404474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026291
SamplesRW_0662
Known GenesCOX4I2, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, HM13, HM13-AS1, ID1, LINC00028, MIR3193, PSIMCT-1, REM1
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)esv2763228
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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