A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927253



Internal ID13886910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159300442..159300484hg38UCSC Ensembl
Innerchr5:159300461..159300463hg38UCSC Ensembl
Outerchr5:159300419..159300507hg38UCSC Ensembl
chr5:158727450..158727492hg19UCSC Ensembl
Innerchr5:158727469..158727471hg19UCSC Ensembl
Outerchr5:158727427..158727515hg19UCSC Ensembl
chr5:158660028..158660070hg18UCSC Ensembl
Innerchr5:158660049..158660047hg18UCSC Ensembl
Outerchr5:158660005..158660093hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38213
hg19213
hg18213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447630
Supporting Variants
SamplesNA18520
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927253
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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