A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694629



Internal ID15046145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1591837..1592935hg38UCSC Ensembl
Innerchr5:1591935..1592837hg38UCSC Ensembl
Outerchr5:1590837..1593935hg38UCSC Ensembl
chr5:1591952..1593050hg19UCSC Ensembl
Innerchr5:1592050..1592952hg19UCSC Ensembl
Outerchr5:1590952..1594050hg19UCSC Ensembl
chr5:1644952..1646050hg18UCSC Ensembl
Innerchr5:1645952..1645050hg18UCSC Ensembl
Outerchr5:1643952..1647050hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418475
Supporting Variants
SamplesNA19239
Known GenesSDHAP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694629
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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