A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9617434



Internal ID14706555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113501282..113501301hg38UCSC Ensembl
Innerchr4:113501278..113501305hg38UCSC Ensembl
Outerchr4:113501259..113501324hg38UCSC Ensembl
chr4:114422438..114422457hg19UCSC Ensembl
Innerchr4:114422434..114422461hg19UCSC Ensembl
Outerchr4:114422415..114422480hg19UCSC Ensembl
chr4:114641887..114641906hg18UCSC Ensembl
Innerchr4:114641910..114641883hg18UCSC Ensembl
Outerchr4:114641864..114641929hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344069
Supporting Variants
SamplesNA18970
Known GenesCAMK2D
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9617434
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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