A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761748



Internal ID10029098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71341747..71472405hg38UCSC Ensembl
Innerchr12:71735527..71866185hg19UCSC Ensembl
Innerchr12:70021794..70152452hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38130659
hg19130659
hg18130659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997439
SamplesSW_0086
Known GenesLGR5
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)esv2761748
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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