A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763677



Internal ID10376357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18680841..18709557hg38UCSC Ensembl
Innerchr21:20053159..20081875hg19UCSC Ensembl
Innerchr21:18975030..19003746hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3828717
hg1928717
hg1828717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004304, essv7004292, essv7004303, essv7004297, essv7004296, essv7004293, essv7004299, essv7004302, essv7004294, essv7004298, essv7004305, essv7004295
SamplesSW_0835, SW_0191, SW_1330, SW_1049, SW_0085, SW_1165, SW_1134, SW_0859, SW_1295, SW_1193, SW_1249, SW_0007
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)esv2763677
Frequency
Sample Size1109
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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