A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367752



Internal ID15214728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107729941..107730212hg38UCSC Ensembl
Innerchr7:107729940..107730213hg38UCSC Ensembl
Outerchr7:107729831..107730332hg38UCSC Ensembl
chr7:107370386..107370657hg19UCSC Ensembl
Innerchr7:107370385..107370658hg19UCSC Ensembl
Outerchr7:107370276..107370777hg19UCSC Ensembl
chr7:107157622..107157893hg18UCSC Ensembl
Innerchr7:107157894..107157621hg18UCSC Ensembl
Outerchr7:107157512..107158013hg18UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809415
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367752
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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