A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309799



Internal ID15156750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116779788..116779789hg38UCSC Ensembl
Innerchr1:116779766..116779811hg38UCSC Ensembl
Outerchr1:116779765..116779812hg38UCSC Ensembl
chr1:117322410..117322411hg19UCSC Ensembl
Innerchr1:117322388..117322433hg19UCSC Ensembl
Outerchr1:117322387..117322434hg19UCSC Ensembl
chr1:117123933..117123934hg18UCSC Ensembl
Innerchr1:117123956..117123911hg18UCSC Ensembl
Outerchr1:117123910..117123957hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839128
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309799
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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