A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342312



Internal ID15189297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155857797..155859795hg38UCSC Ensembl
Innerchr7:155858795..155858797hg38UCSC Ensembl
Outerchr7:155856797..155860795hg38UCSC Ensembl
chr7:155650491..155652489hg19UCSC Ensembl
Innerchr7:155651489..155651491hg19UCSC Ensembl
Outerchr7:155649491..155653489hg19UCSC Ensembl
chr7:155343252..155345250hg18UCSC Ensembl
Innerchr7:155344252..155344250hg18UCSC Ensembl
Outerchr7:155342252..155346250hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695662
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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