A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694563



Internal ID14698879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72637..73935hg38UCSC Ensembl
Innerchr5:72935..73637hg38UCSC Ensembl
Outerchr5:71637..74935hg38UCSC Ensembl
chr5:72752..74050hg19UCSC Ensembl
Innerchr5:73050..73752hg19UCSC Ensembl
Outerchr5:71752..75050hg19UCSC Ensembl
chr5:125752..127050hg18UCSC Ensembl
Innerchr5:126752..126050hg18UCSC Ensembl
Outerchr5:124752..128050hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382872
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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