A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307644



Internal ID15154592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111298021..111298022hg38UCSC Ensembl
Innerchr5:111297999..111298044hg38UCSC Ensembl
Outerchr5:111297998..111298045hg38UCSC Ensembl
chr5:110633719..110633720hg19UCSC Ensembl
Innerchr5:110633697..110633742hg19UCSC Ensembl
Outerchr5:110633696..110633743hg19UCSC Ensembl
chr5:110661618..110661619hg18UCSC Ensembl
Innerchr5:110661641..110661596hg18UCSC Ensembl
Outerchr5:110661595..110661642hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg385402
hg195402
hg185402
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765966
SamplesNA12873
Known GenesCAMK4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307644
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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