A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760843



Internal ID10377150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114190335..114203625hg38UCSC Ensembl
Innerchr12:114628140..114641430hg19UCSC Ensembl
Innerchr12:113112523..113125813hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3813291
hg1913291
hg1813291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997577, essv6997579, essv6997576
SamplesSW_0031, SW_1116, SW_0632
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)esv2760843
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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