A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996877



Internal ID10019049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11068125..11123437hg38UCSC Ensembl
Innerchr12:11220724..11276036hg19UCSC Ensembl
Innerchr12:11111991..11167303hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855313
hg1955313
hg1855313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760999
Supporting Variants
SamplesSW_1150
Known GenesPRH1-PRR4, TAS2R43
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)essv6996877
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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