A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7774607



Internal ID13956306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124737853..124737854hg38UCSC Ensembl
Innerchr4:124737836..124737871hg38UCSC Ensembl
Outerchr4:124737835..124737872hg38UCSC Ensembl
chr4:125659008..125659009hg19UCSC Ensembl
Innerchr4:125658991..125659026hg19UCSC Ensembl
Outerchr4:125658990..125659027hg19UCSC Ensembl
chr4:125878458..125878459hg18UCSC Ensembl
Innerchr4:125878476..125878441hg18UCSC Ensembl
Outerchr4:125878440..125878477hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305476
Supporting Variants
SamplesNA18537
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7774607
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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