A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763685



Internal ID10376365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14532624..14560961hg38UCSC Ensembl
Innerchr21:15904945..15933282hg19UCSC Ensembl
Innerchr21:14826816..14855153hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3828338
hg1928338
hg1828338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004286, essv7004287
SamplesSW_1408, SW_1148
Known GenesSAMSN1
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)esv2763685
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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