A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307404



Internal ID15154352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106976622..106976623hg38UCSC Ensembl
Innerchr12:106976556..106976689hg38UCSC Ensembl
Outerchr12:106976555..106976690hg38UCSC Ensembl
chr12:107370400..107370401hg19UCSC Ensembl
Innerchr12:107370334..107370467hg19UCSC Ensembl
Outerchr12:107370333..107370468hg19UCSC Ensembl
chr12:105894530..105894531hg18UCSC Ensembl
Innerchr12:105894597..105894464hg18UCSC Ensembl
Outerchr12:105894463..105894598hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750510
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307404
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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