A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741295



Internal ID15089358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27334752..27334752hg38UCSC Ensembl
Innerchr7:27334751..27334753hg38UCSC Ensembl
Outerchr7:27334702..27334802hg38UCSC Ensembl
chr7:27374371..27374371hg19UCSC Ensembl
Innerchr7:27374370..27374372hg19UCSC Ensembl
Outerchr7:27374321..27374421hg19UCSC Ensembl
chr7:27340896..27340896hg18UCSC Ensembl
Innerchr7:27340897..27340895hg18UCSC Ensembl
Outerchr7:27340846..27340946hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38539
hg19539
hg18539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3344604
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741295
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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