A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762223



Internal ID10029573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225837474..226014015hg38UCSC Ensembl
Innerchr1:226025175..226201716hg19UCSC Ensembl
Innerchr1:224091798..224268339hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38176542
hg19176542
hg18176542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006999
SamplesRW_0549
Known GenesEPHX1, LEFTY1, LEFTY2, MIR6741, PYCR2, SDE2, TMEM63A
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)esv2762223
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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