A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864357



Internal ID13316810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:104912455..104912482hg38UCSC Ensembl
Innerchr4:104912457..104912480hg38UCSC Ensembl
Outerchr4:104912453..104912484hg38UCSC Ensembl
chr4:105833612..105833639hg19UCSC Ensembl
Innerchr4:105833614..105833637hg19UCSC Ensembl
Outerchr4:105833610..105833641hg19UCSC Ensembl
chr4:106053061..106053088hg18UCSC Ensembl
Innerchr4:106053063..106053086hg18UCSC Ensembl
Outerchr4:106053059..106053090hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3331415
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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