A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3420458



Internal ID15267416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68421075..68421081hg38UCSC Ensembl
Innerchr2:68421067..68421087hg38UCSC Ensembl
Outerchr2:68421061..68421095hg38UCSC Ensembl
chr2:68648207..68648213hg19UCSC Ensembl
Innerchr2:68648199..68648219hg19UCSC Ensembl
Outerchr2:68648193..68648227hg19UCSC Ensembl
chr2:68501711..68501717hg18UCSC Ensembl
Innerchr2:68501723..68501703hg18UCSC Ensembl
Outerchr2:68501697..68501731hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8906973, essv8906981, essv8906974, essv8906970, essv8906979, essv8906977, essv8906976, essv8906968, essv8906971, essv8906975, essv8906982, essv8906972, essv8906978
SamplesNA18502, NA18959, NA18870, NA18510, NA18519, NA18964, NA18871, NA18912, NA19257, NA19147, NA18564, NA19093, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3420458
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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