A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694635



Internal ID15046173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170184170..170185568hg38UCSC Ensembl
Innerchr5:170184568..170185170hg38UCSC Ensembl
Outerchr5:170183170..170186568hg38UCSC Ensembl
chr5:169611174..169612572hg19UCSC Ensembl
Innerchr5:169611572..169612174hg19UCSC Ensembl
Outerchr5:169610174..169613572hg19UCSC Ensembl
chr5:169543752..169545150hg18UCSC Ensembl
Innerchr5:169544752..169544150hg18UCSC Ensembl
Outerchr5:169542752..169546150hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3348409
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694635
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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