A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760225



Internal ID10376533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58097049..58120329hg38UCSC Ensembl
Innerchr12:58490832..58514112hg19UCSC Ensembl
Innerchr12:56777099..56800379hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3823281
hg1923281
hg1823281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020945, essv7020946
SamplesRW_0197, RW_0333
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)esv2760225
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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