A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342826



Internal ID15189811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68178492..68178512hg38UCSC Ensembl
Innerchr2:68178491..68178510hg38UCSC Ensembl
Outerchr2:68178471..68178533hg38UCSC Ensembl
chr2:68405624..68405644hg19UCSC Ensembl
Innerchr2:68405623..68405642hg19UCSC Ensembl
Outerchr2:68405603..68405665hg19UCSC Ensembl
chr2:68259128..68259148hg18UCSC Ensembl
Innerchr2:68259146..68259127hg18UCSC Ensembl
Outerchr2:68259107..68259169hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8906960, essv8906962, essv8906961, essv8906966, essv8906967, essv8906965, essv8906964, essv8906963
SamplesNA18861, NA18508, NA18504, NA18519, NA19114, NA19099, NA19225, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342826
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer