A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020934



Internal ID10347590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909703..39923841hg38UCSC Ensembl
Innerchr12:40303505..40317643hg19UCSC Ensembl
Innerchr12:38589772..38603910hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3814139
hg1914139
hg1814139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760268
Supporting Variants
SamplesRW_0568
Known GenesSLC2A13
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)essv7020934
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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