A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741057



Internal ID15086480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239885728..239885827hg38UCSC Ensembl
Innerchr2:239885777..239885778hg38UCSC Ensembl
Outerchr2:239885727..239885877hg38UCSC Ensembl
chr2:240825145..240825244hg19UCSC Ensembl
Innerchr2:240825194..240825195hg19UCSC Ensembl
Outerchr2:240825144..240825294hg19UCSC Ensembl
chr2:240474071..240474170hg18UCSC Ensembl
Innerchr2:240474121..240474120hg18UCSC Ensembl
Outerchr2:240474021..240474220hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391912
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741057
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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