A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787831



Internal ID13427346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2536159..2536160hg38UCSC Ensembl
Innerchr2:2536141..2536178hg38UCSC Ensembl
Outerchr2:2536140..2536179hg38UCSC Ensembl
chr2:2539931..2539932hg19UCSC Ensembl
Innerchr2:2539913..2539950hg19UCSC Ensembl
Outerchr2:2539912..2539951hg19UCSC Ensembl
chr2:2518938..2518939hg18UCSC Ensembl
Innerchr2:2518957..2518920hg18UCSC Ensembl
Outerchr2:2518919..2518958hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307759
Supporting Variants
SamplesNA12249
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787831
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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