A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762987



Internal ID10377698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68570882..68577445hg38UCSC Ensembl
Innerchr12:68964662..68971225hg19UCSC Ensembl
Innerchr12:67250929..67257492hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386564
hg196564
hg186564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020994
SamplesRW_0248
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)esv2762987
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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