A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306561



Internal ID15153509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044585..105044586hg38UCSC Ensembl
Innerchr12:105044563..105044608hg38UCSC Ensembl
Outerchr12:105044562..105044609hg38UCSC Ensembl
chr12:105438363..105438364hg19UCSC Ensembl
Innerchr12:105438341..105438386hg19UCSC Ensembl
Outerchr12:105438340..105438387hg19UCSC Ensembl
chr12:103962493..103962494hg18UCSC Ensembl
Innerchr12:103962516..103962471hg18UCSC Ensembl
Outerchr12:103962470..103962517hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765411, essv7768915, essv7763823, essv7766373, essv7763876, essv7767484, essv7767980, essv7768811, essv7767049, essv7769390, essv7765284, essv7769807
SamplesNA12891, NA12287, NA18970, NA19238, NA19239, NA12878, NA11894, NA12249, NA12892, NA12043, NA19240, NA19143
Known GenesALDH1L2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306561
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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