A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760694



Internal ID10377001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30264984..30278261hg38UCSC Ensembl
Innerchr21:31637302..31650579hg19UCSC Ensembl
Innerchr21:30559173..30572450hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3813278
hg1913278
hg1813278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026576, essv7026573, essv7026568, essv7026565, essv7026563, essv7026572, essv7026574, essv7026571, essv7026564, essv7026569, essv7026566, essv7026570, essv7026575
SamplesRW_0348, RW_0268, RW_0006, RW_0218, RW_0539, RW_0176, RW_0029, RW_0625, RW_0013, RW_0048, RW_0273, RW_0184, RW_0234
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)esv2760694
Frequency
Sample Size1109
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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