A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678970



Internal ID14760720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168718167..168718186hg38UCSC Ensembl
Innerchr5:168718163..168718190hg38UCSC Ensembl
Outerchr5:168718144..168718209hg38UCSC Ensembl
chr5:168145172..168145191hg19UCSC Ensembl
Innerchr5:168145168..168145195hg19UCSC Ensembl
Outerchr5:168145149..168145214hg19UCSC Ensembl
chr5:168077750..168077769hg18UCSC Ensembl
Innerchr5:168077773..168077746hg18UCSC Ensembl
Outerchr5:168077727..168077792hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396598
Supporting Variants
SamplesNA19240
Known GenesSLIT3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678970
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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