A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652389



Internal ID15103356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138206106..138206721hg38UCSC Ensembl
Innerchr8:138206106..138206721hg38UCSC Ensembl
Outerchr8:138205439..138207666hg38UCSC Ensembl
chr8:139218349..139218964hg19UCSC Ensembl
Innerchr8:139218349..139218964hg19UCSC Ensembl
Outerchr8:139217682..139219909hg19UCSC Ensembl
chr8:139287531..139288146hg18UCSC Ensembl
Innerchr8:139287531..139288146hg18UCSC Ensembl
Outerchr8:139286864..139289091hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38616
hg19616
hg18616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369978
Supporting Variants
SamplesNA19240
Known GenesFAM135B
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652389
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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