A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359418



Internal ID15206397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47473929..47475327hg38UCSC Ensembl
Innerchr7:47474327..47474929hg38UCSC Ensembl
Outerchr7:47472929..47476327hg38UCSC Ensembl
chr7:47513527..47514925hg19UCSC Ensembl
Innerchr7:47513925..47514527hg19UCSC Ensembl
Outerchr7:47512527..47515925hg19UCSC Ensembl
chr7:47480052..47481450hg18UCSC Ensembl
Innerchr7:47481052..47480450hg18UCSC Ensembl
Outerchr7:47479052..47482450hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3790e59
Supporting Variantsessv8695803
SamplesNA19239
Known GenesTNS3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359418
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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