A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760884



Internal ID10377191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15758057..15774558hg38UCSC Ensembl
Innerchr4:15759680..15776181hg19UCSC Ensembl
Innerchr4:15368778..15385279hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3816502
hg1916502
hg1816502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010560, essv7010558, essv7010564, essv7010559, essv7010562, essv7010557, essv7010563, essv7010565, essv7010556, essv7010561
SamplesRW_0348, RW_0239, RW_0049, RW_0281, RW_0020, RW_0032, RW_0331, RW_0200, RW_0594, RW_0213
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)esv2760884
Frequency
Sample Size1109
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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