A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760249



Internal ID10027612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32296181..32302686hg38UCSC Ensembl
Innerchr12:32449115..32455620hg19UCSC Ensembl
Innerchr12:32340382..32346887hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg386506
hg196506
hg186506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020820, essv7020821, essv7020823
SamplesRW_0045, RW_0505, RW_0079
Known GenesBICD1
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)esv2760249
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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