A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760262



Internal ID10376570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34156559..34701563hg38UCSC Ensembl
Innerchr12:34309494..34854498hg19UCSC Ensembl
Innerchr12:34200761..34745765hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38545005
hg19545005
hg18545005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020881, essv7020882, essv7020883, essv7020885, essv7020880, essv7020879, essv7020877, essv7020884
SamplesRW_0138, RW_0095, RW_0204, RW_0597, RW_0289, RW_0523, RW_0663, RW_0266
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)esv2760262
Frequency
Sample Size1109
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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