A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694505



Internal ID14698385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76886075..76887773hg38UCSC Ensembl
Innerchr4:76886773..76887075hg38UCSC Ensembl
Outerchr4:76885075..76888773hg38UCSC Ensembl
chr4:77807228..77808926hg19UCSC Ensembl
Innerchr4:77807926..77808228hg19UCSC Ensembl
Outerchr4:77806228..77809926hg19UCSC Ensembl
chr4:78026252..78027950hg18UCSC Ensembl
Innerchr4:78027252..78026950hg18UCSC Ensembl
Outerchr4:78025252..78028950hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398843
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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