A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020964



Internal ID10345658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61039929..61058490hg38UCSC Ensembl
Innerchr12:61433710..61452271hg19UCSC Ensembl
Innerchr12:59719977..59738538hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3818562
hg1918562
hg1818562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760230
Supporting Variants
SamplesRW_0518
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)essv7020964
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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