A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652267



Internal ID15102611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53923316..53924154hg38UCSC Ensembl
Innerchr4:53923316..53924154hg38UCSC Ensembl
Outerchr4:53922500..53924830hg38UCSC Ensembl
chr4:54789483..54790321hg19UCSC Ensembl
Innerchr4:54789483..54790321hg19UCSC Ensembl
Outerchr4:54788667..54790997hg19UCSC Ensembl
chr4:54484240..54485078hg18UCSC Ensembl
Innerchr4:54484240..54485078hg18UCSC Ensembl
Outerchr4:54483424..54485754hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38839
hg19839
hg18839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444999
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652267
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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