A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9623892



Internal ID13617999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111298027..111298046hg38UCSC Ensembl
Innerchr5:111298023..111298050hg38UCSC Ensembl
Outerchr5:111298004..111298069hg38UCSC Ensembl
chr5:110633725..110633744hg19UCSC Ensembl
Innerchr5:110633721..110633748hg19UCSC Ensembl
Outerchr5:110633702..110633767hg19UCSC Ensembl
chr5:110661624..110661643hg18UCSC Ensembl
Innerchr5:110661647..110661620hg18UCSC Ensembl
Outerchr5:110661601..110661666hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451295
Supporting Variants
SamplesNA12873
Known GenesCAMK4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9623892
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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