A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307343



Internal ID15154291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97132615..97132616hg38UCSC Ensembl
Innerchr12:97132586..97132645hg38UCSC Ensembl
Outerchr12:97132585..97132646hg38UCSC Ensembl
chr12:97526393..97526394hg19UCSC Ensembl
Innerchr12:97526364..97526423hg19UCSC Ensembl
Outerchr12:97526363..97526424hg19UCSC Ensembl
chr12:96050524..96050525hg18UCSC Ensembl
Innerchr12:96050554..96050495hg18UCSC Ensembl
Outerchr12:96050494..96050555hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760608, essv7762520, essv7756582, essv7740737, essv7747255, essv7753781, essv7755744, essv7742867, essv7761138, essv7751942, essv7752149, essv7750961
SamplesNA18980, NA12750, NA07346, NA18944, NA11992, NA11918, NA12828, NA18638, NA18605, NA12716, NA12763, NA06986
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307343
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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