A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307956



Internal ID15154904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121180758..121180759hg38UCSC Ensembl
Innerchr2:121180728..121180789hg38UCSC Ensembl
Outerchr2:121180727..121180790hg38UCSC Ensembl
chr2:121938334..121938335hg19UCSC Ensembl
Innerchr2:121938304..121938365hg19UCSC Ensembl
Outerchr2:121938303..121938366hg19UCSC Ensembl
chr2:121654804..121654805hg18UCSC Ensembl
Innerchr2:121654835..121654774hg18UCSC Ensembl
Outerchr2:121654773..121654836hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838858
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307956
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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