A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305113



Internal ID14805375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11738543..11738544hg38UCSC Ensembl
Innerchr2:11738516..11738571hg38UCSC Ensembl
Outerchr2:11738515..11738572hg38UCSC Ensembl
chr2:11878669..11878670hg19UCSC Ensembl
Innerchr2:11878642..11878697hg19UCSC Ensembl
Outerchr2:11878641..11878698hg19UCSC Ensembl
chr2:11796120..11796121hg18UCSC Ensembl
Innerchr2:11796148..11796093hg18UCSC Ensembl
Outerchr2:11796092..11796149hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741711, essv7743088, essv7755375
SamplesNA19108, NA18916, NA18502
Known GenesLPIN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305113
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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