A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996480



Internal ID10008358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2122991..2149240hg38UCSC Ensembl
Innerchr12:2232157..2258406hg19UCSC Ensembl
Innerchr12:2102418..2128667hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3826250
hg1926250
hg1826250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760788
Supporting Variants
SamplesSW_0200
Known GenesCACNA1C
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)essv6996480
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