A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763681



Internal ID10031031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10336545..10775586hg38UCSC Ensembl
Innerchr21:10736871..11175912hg19UCSC Ensembl
Innerchr21:9758742..10197783hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38439042
hg19439042
hg18439042
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004257, essv7004255, essv7004266, essv7004252, essv7004260, essv7004261, essv7004253, essv7004262, essv7004259, essv7004251, essv7004254, essv7004258, essv7004263, essv7004265, essv7004264
SamplesSW_1229, SW_0831, SW_0160, SW_1054, SW_1209, SW_1290, SW_0057, SW_1085, SW_0016, SW_1294, SW_1157, SW_1485, SW_1060, SW_0045, SW_1043
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
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)esv2763681
Frequency
Sample Size1109
Observed Gain7
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer