A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694722



Internal ID15085268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:23526886..23527284hg38UCSC Ensembl
Innerchr5:23526885..23527285hg38UCSC Ensembl
Outerchr5:23525886..23528284hg38UCSC Ensembl
chr5:23526995..23527393hg19UCSC Ensembl
Innerchr5:23526994..23527394hg19UCSC Ensembl
Outerchr5:23525995..23528393hg19UCSC Ensembl
chr5:23562752..23563150hg18UCSC Ensembl
Innerchr5:23563151..23562751hg18UCSC Ensembl
Outerchr5:23561752..23564150hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427604
Supporting Variants
SamplesNA19240
Known GenesPRDM9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694722
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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