A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696603



Internal ID15100213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138236281..138239679hg38UCSC Ensembl
Innerchr9:138237281..138238679hg38UCSC Ensembl
Outerchr9:138235281..138240679hg38UCSC Ensembl
chr9:141126731..141130129hg19UCSC Ensembl
Innerchr9:141127731..141129129hg19UCSC Ensembl
Outerchr9:141125731..141131129hg19UCSC Ensembl
chr9:140246552..140249950hg18UCSC Ensembl
Innerchr9:140247552..140248950hg18UCSC Ensembl
Outerchr9:140245552..140250950hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423624
Supporting Variants
SamplesNA19240
Known GenesFAM157B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696603
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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