A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7780666



Internal ID14232005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42086014..42086015hg38UCSC Ensembl
Innerchr4:42085996..42086033hg38UCSC Ensembl
Outerchr4:42085995..42086034hg38UCSC Ensembl
chr4:42088031..42088032hg19UCSC Ensembl
Innerchr4:42088013..42088050hg19UCSC Ensembl
Outerchr4:42088012..42088051hg19UCSC Ensembl
chr4:41782788..41782789hg18UCSC Ensembl
Innerchr4:41782807..41782770hg18UCSC Ensembl
Outerchr4:41782769..41782808hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303686
Supporting Variants
SamplesNA18579
Known GenesSLC30A9
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7780666
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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