A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762624



Internal ID10375422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:159302011..159313459hg38UCSC Ensembl
Innerchr6:159723043..159734491hg19UCSC Ensembl
Innerchr6:159643033..159654481hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3811449
hg1911449
hg1811449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014328
SamplesRW_0139
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)esv2762624
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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