A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762159



Internal ID10374957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92113687..92120522hg38UCSC Ensembl
Innerchr1:92579244..92586079hg19UCSC Ensembl
Innerchr1:92351832..92358667hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386836
hg196836
hg186836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005595
SamplesRW_0202
Known GenesBTBD8
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)esv2762159
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