A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337615



Internal ID15184602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120859237..120859273hg38UCSC Ensembl
Innerchr7:120859183..120859327hg38UCSC Ensembl
Outerchr7:120859147..120859363hg38UCSC Ensembl
chr7:120499291..120499327hg19UCSC Ensembl
Innerchr7:120499237..120499381hg19UCSC Ensembl
Outerchr7:120499201..120499417hg19UCSC Ensembl
chr7:120286527..120286563hg18UCSC Ensembl
Innerchr7:120286617..120286473hg18UCSC Ensembl
Outerchr7:120286437..120286653hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864765
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337615
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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