A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864407



Internal ID13316878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182770097..182770124hg38UCSC Ensembl
Innerchr4:182770057..182770164hg38UCSC Ensembl
Outerchr4:182770030..182770191hg38UCSC Ensembl
chr4:183691250..183691277hg19UCSC Ensembl
Innerchr4:183691210..183691317hg19UCSC Ensembl
Outerchr4:183691183..183691344hg19UCSC Ensembl
chr4:183928244..183928271hg18UCSC Ensembl
Innerchr4:183928311..183928204hg18UCSC Ensembl
Outerchr4:183928177..183928338hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328475
Supporting Variants
SamplesNA12005
Known GenesTENM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864407
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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