A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369073



Internal ID15216049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47473929..47475427hg38UCSC Ensembl
Innerchr7:47474427..47474929hg38UCSC Ensembl
Outerchr7:47472929..47476427hg38UCSC Ensembl
chr7:47513527..47515025hg19UCSC Ensembl
Innerchr7:47514025..47514527hg19UCSC Ensembl
Outerchr7:47512527..47516025hg19UCSC Ensembl
chr7:47480052..47481550hg18UCSC Ensembl
Innerchr7:47481052..47480550hg18UCSC Ensembl
Outerchr7:47479052..47482550hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3790e59
Supporting Variantsessv8695804
SamplesNA19238
Known GenesTNS3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369073
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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