A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411422



Internal ID15258382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670574..44670586hg38UCSC Ensembl
Innerchr12:44670568..44670590hg38UCSC Ensembl
Outerchr12:44670556..44670602hg38UCSC Ensembl
chr12:45064357..45064369hg19UCSC Ensembl
Innerchr12:45064351..45064373hg19UCSC Ensembl
Outerchr12:45064339..45064385hg19UCSC Ensembl
chr12:43350624..43350636hg18UCSC Ensembl
Innerchr12:43350640..43350618hg18UCSC Ensembl
Outerchr12:43350606..43350652hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672370, essv8672368, essv8672369
SamplesNA12891, NA19239, NA19240
Known GenesNELL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411422
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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