A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836668



Internal ID14690974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168817978..168817979hg38UCSC Ensembl
Innerchr5:168817933..168818024hg38UCSC Ensembl
Outerchr5:168817932..168818025hg38UCSC Ensembl
chr5:168244983..168244984hg19UCSC Ensembl
Innerchr5:168244938..168245029hg19UCSC Ensembl
Outerchr5:168244937..168245030hg19UCSC Ensembl
chr5:168177561..168177562hg18UCSC Ensembl
Innerchr5:168177607..168177516hg18UCSC Ensembl
Outerchr5:168177515..168177608hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309307
Supporting Variants
SamplesNA19239
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836668
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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