A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444885



Internal ID15291837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27114818..27114818hg38UCSC Ensembl
Innerchr7:27114817..27114819hg38UCSC Ensembl
Outerchr7:27114758..27114868hg38UCSC Ensembl
chr7:27154437..27154437hg19UCSC Ensembl
Innerchr7:27154436..27154438hg19UCSC Ensembl
Outerchr7:27154377..27154487hg19UCSC Ensembl
chr7:27120962..27120962hg18UCSC Ensembl
Innerchr7:27120963..27120961hg18UCSC Ensembl
Outerchr7:27120902..27121012hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8841361
SamplesNA19240
Known GenesHOXA3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444885
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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