A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307236



Internal ID15154184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105969154..105969155hg38UCSC Ensembl
Innerchr2:105969132..105969177hg38UCSC Ensembl
Outerchr2:105969131..105969178hg38UCSC Ensembl
chr2:106585610..106585611hg19UCSC Ensembl
Innerchr2:106585588..106585633hg19UCSC Ensembl
Outerchr2:106585587..106585634hg19UCSC Ensembl
chr2:105952042..105952043hg18UCSC Ensembl
Innerchr2:105952065..105952020hg18UCSC Ensembl
Outerchr2:105952019..105952066hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7767172, essv7769924, essv7765290
SamplesNA11931, NA07346, NA12249
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307236
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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