A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7839647



Internal ID13620872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50323440..50323441hg38UCSC Ensembl
Innerchr18:50323418..50323463hg38UCSC Ensembl
Outerchr18:50323417..50323464hg38UCSC Ensembl
chr18:47849810..47849811hg19UCSC Ensembl
Innerchr18:47849788..47849833hg19UCSC Ensembl
Outerchr18:47849787..47849834hg19UCSC Ensembl
chr18:46103808..46103809hg18UCSC Ensembl
Innerchr18:46103831..46103786hg18UCSC Ensembl
Outerchr18:46103785..46103832hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385373
hg195373
hg185373
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309563
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7839647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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