A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020940



Internal ID10001396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50325655..50342388hg38UCSC Ensembl
Innerchr12:50719438..50736171hg19UCSC Ensembl
Innerchr12:49005705..49022438hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3816734
hg1916734
hg1816734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762979
Supporting Variants
SamplesRW_0582
Known GenesFAM186A
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)essv7020940
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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