A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696614



Internal ID13657391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:29452..35550hg38UCSC Ensembl
Innerchr9:30452..34550hg38UCSC Ensembl
Outerchr9:28452..36550hg38UCSC Ensembl
chr9:29452..35550hg19UCSC Ensembl
Innerchr9:30452..34550hg19UCSC Ensembl
Outerchr9:28452..36550hg19UCSC Ensembl
chr9:19452..25550hg18UCSC Ensembl
Innerchr9:20452..24550hg18UCSC Ensembl
Outerchr9:18452..26550hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg386099
hg196099
hg186099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3366630
Supporting Variants
SamplesNA12878
Known GenesFAM138C, WASH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696614
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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