A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843510



Internal ID14737611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16224886..16225573hg38UCSC Ensembl
Outerchr2:16224886..16225573hg38UCSC Ensembl
Innerchr2:16406154..16406841hg19UCSC Ensembl
Outerchr2:16406154..16406841hg19UCSC Ensembl
Innerchr2:16270322..16269635hg18UCSC Ensembl
Outerchr2:16269635..16270322hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38559
hg19559
hg18559
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310422
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843510
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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