A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756132



Internal ID14386950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151069568..151069569hg38UCSC Ensembl
Innerchr2:151069540..151069597hg38UCSC Ensembl
Outerchr2:151069539..151069598hg38UCSC Ensembl
chr2:151926082..151926083hg19UCSC Ensembl
Innerchr2:151926054..151926111hg19UCSC Ensembl
Outerchr2:151926053..151926112hg19UCSC Ensembl
chr2:151634328..151634329hg18UCSC Ensembl
Innerchr2:151634357..151634300hg18UCSC Ensembl
Outerchr2:151634299..151634358hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304926
Supporting Variants
SamplesNA18870
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756132
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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