A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303085



Internal ID14803347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9604463..9605673hg38UCSC Ensembl
Innerchr12:9604563..9605573hg38UCSC Ensembl
Outerchr12:9604363..9605773hg38UCSC Ensembl
chr12:9757059..9758269hg19UCSC Ensembl
Innerchr12:9757159..9758169hg19UCSC Ensembl
Outerchr12:9756959..9758369hg19UCSC Ensembl
chr12:9648326..9649536hg18UCSC Ensembl
Innerchr12:9648426..9649436hg18UCSC Ensembl
Outerchr12:9648226..9649636hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381211
hg191211
hg181211
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735910, essv7732905, essv7735605
SamplesNA18948, NA18949, NA18907
Known GenesKLRB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303085
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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