A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376617



Internal ID15223590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:71244505..71244516hg38UCSC Ensembl
Innerchr3:71244507..71244514hg38UCSC Ensembl
Outerchr3:71244503..71244518hg38UCSC Ensembl
chr3:71293656..71293667hg19UCSC Ensembl
Innerchr3:71293658..71293665hg19UCSC Ensembl
Outerchr3:71293654..71293669hg19UCSC Ensembl
chr3:71376346..71376357hg18UCSC Ensembl
Innerchr3:71376348..71376355hg18UCSC Ensembl
Outerchr3:71376344..71376359hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864151, essv7864150
SamplesNA12005, NA18871
Known GenesFOXP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376617
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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