A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346544



Internal ID15193526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38502277..38503675hg38UCSC Ensembl
Innerchr8:38502675..38503277hg38UCSC Ensembl
Outerchr8:38501277..38504675hg38UCSC Ensembl
chr8:38359795..38361193hg19UCSC Ensembl
Innerchr8:38360193..38360795hg19UCSC Ensembl
Outerchr8:38358795..38362193hg19UCSC Ensembl
chr8:38478952..38480350hg18UCSC Ensembl
Innerchr8:38479952..38479350hg18UCSC Ensembl
Outerchr8:38477952..38481350hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4129e59
Supporting Variantsessv8696291
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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