A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760765



Internal ID10028127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:155463591..155464678hg38UCSC Ensembl
Innerchr3:155181380..155182467hg19UCSC Ensembl
Innerchr3:156664074..156665161hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009531, essv7009534, essv7009532, essv7009535, essv7009529, essv7009536, essv7009530
SamplesRW_0636, RW_0146, RW_0560, RW_0555, RW_0549, RW_0615, RW_0663
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)esv2760765
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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