A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361164



Internal ID15208142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61555948..61555967hg38UCSC Ensembl
Innerchr1:61555944..61555971hg38UCSC Ensembl
Outerchr1:61555925..61555990hg38UCSC Ensembl
chr1:62021620..62021639hg19UCSC Ensembl
Innerchr1:62021616..62021643hg19UCSC Ensembl
Outerchr1:62021597..62021662hg19UCSC Ensembl
chr1:61794208..61794227hg18UCSC Ensembl
Innerchr1:61794231..61794204hg18UCSC Ensembl
Outerchr1:61794185..61794250hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9594469
SamplesNA12249
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361164
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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