A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303922



Internal ID15150870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68178490..68178491hg38UCSC Ensembl
Innerchr2:68178459..68178522hg38UCSC Ensembl
Outerchr2:68178458..68178523hg38UCSC Ensembl
chr2:68405622..68405623hg19UCSC Ensembl
Innerchr2:68405591..68405654hg19UCSC Ensembl
Outerchr2:68405590..68405655hg19UCSC Ensembl
chr2:68259126..68259127hg18UCSC Ensembl
Innerchr2:68259158..68259095hg18UCSC Ensembl
Outerchr2:68259094..68259159hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749633, essv7742310, essv7754815, essv7753536, essv7747951, essv7747251, essv7740482, essv7759272
SamplesNA18861, NA18508, NA18504, NA18519, NA19114, NA19099, NA19225, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303922
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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