A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425186



Internal ID15272143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112318270..112318270hg38UCSC Ensembl
Innerchr8:112318269..112318271hg38UCSC Ensembl
Outerchr8:112318220..112318320hg38UCSC Ensembl
chr8:113330499..113330499hg19UCSC Ensembl
Innerchr8:113330498..113330500hg19UCSC Ensembl
Outerchr8:113330449..113330549hg19UCSC Ensembl
chr8:113399675..113399675hg18UCSC Ensembl
Innerchr8:113399676..113399674hg18UCSC Ensembl
Outerchr8:113399625..113399725hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38803
hg19803
hg18803
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653548, essv8653546, essv8653547
SamplesNA12891, NA12878, NA12892
Known GenesCSMD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425186
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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