A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762604



Internal ID10375402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80883558..81032376hg38UCSC Ensembl
Innerchr6:81593275..81742093hg19UCSC Ensembl
Innerchr6:81649994..81798812hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38148819
hg19148819
hg18148819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013971
SamplesRW_0319
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)esv2762604
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