A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304926



Internal ID15151874
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 StatusM
Merged Variants
Supporting Variantsessv7758868, essv7743367, essv7759993, essv7751577, essv7750887, essv7756750, essv7756132, essv7755444, essv7740855, essv7750765, essv7754573, essv7746750, essv7744128, essv7744936, essv7747764, essv7744631
SamplesNA18861, NA18507, NA12004, NA18870, NA18510, NA19138, NA18498, NA19137, NA18948, NA19225, NA18576, NA19108, NA18501, NA18552, NA19129, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304926
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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