A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754607



Internal ID14375298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55991590..55991591hg38UCSC Ensembl
Innerchr5:55991561..55991620hg38UCSC Ensembl
Outerchr5:55991560..55991621hg38UCSC Ensembl
chr5:55287418..55287419hg19UCSC Ensembl
Innerchr5:55287389..55287448hg19UCSC Ensembl
Outerchr5:55287388..55287449hg19UCSC Ensembl
chr5:55323175..55323176hg18UCSC Ensembl
Innerchr5:55323205..55323146hg18UCSC Ensembl
Outerchr5:55323145..55323206hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306206
Supporting Variants
SamplesNA18861
Known GenesIL6ST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754607
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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