A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309070



Internal ID14809333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1980674..1980675hg38UCSC Ensembl
Innerchr12:1980657..1980692hg38UCSC Ensembl
Outerchr12:1980656..1980693hg38UCSC Ensembl
chr12:2089840..2089841hg19UCSC Ensembl
Innerchr12:2089823..2089858hg19UCSC Ensembl
Outerchr12:2089822..2089859hg19UCSC Ensembl
chr12:1960101..1960102hg18UCSC Ensembl
Innerchr12:1960119..1960084hg18UCSC Ensembl
Outerchr12:1960083..1960120hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38168
hg19168
hg18168
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841154, essv7842368, essv7842213, essv7840640, essv7840169
SamplesNA12892, NA19238, NA12891, NA12878, NA19240
Known GenesDCP1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309070
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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