A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9624581



Internal ID14912086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137679076..137679095hg38UCSC Ensembl
Innerchr5:137679072..137679099hg38UCSC Ensembl
Outerchr5:137679053..137679118hg38UCSC Ensembl
chr5:137014765..137014784hg19UCSC Ensembl
Innerchr5:137014761..137014788hg19UCSC Ensembl
Outerchr5:137014742..137014807hg19UCSC Ensembl
chr5:137042664..137042683hg18UCSC Ensembl
Innerchr5:137042687..137042660hg18UCSC Ensembl
Outerchr5:137042641..137042706hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387544
Supporting Variants
SamplesNA19143
Known GenesKLHL3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9624581
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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