A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760246



Internal ID10376554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30082346..30091393hg38UCSC Ensembl
Innerchr12:30235279..30244326hg19UCSC Ensembl
Innerchr12:30126546..30135593hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg389048
hg199048
hg189048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25e203
Supporting Variantsessv7020788, essv7020796, essv7020793, essv7020790, essv7020792, essv7020787, essv7020786, essv7020795, essv7020791, essv7020794
SamplesRW_0138, RW_0095, RW_0116, RW_0603, RW_0546, RW_0211, RW_0276, RW_0119, RW_0108, RW_0183
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)esv2760246
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