A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997624



Internal ID10371304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127100821..127567988hg38UCSC Ensembl
Innerchr12:127585366..128052533hg19UCSC Ensembl
Innerchr12:126151319..126618486hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38467168
hg19467168
hg18467168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761775
Supporting Variants
SamplesSW_1398
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)essv6997624
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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