A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379997



Internal ID14880269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16366791..16366808hg38UCSC Ensembl
Innerchr7:16366762..16366837hg38UCSC Ensembl
Outerchr7:16366745..16366854hg38UCSC Ensembl
chr7:16406416..16406433hg19UCSC Ensembl
Innerchr7:16406387..16406462hg19UCSC Ensembl
Outerchr7:16406370..16406479hg19UCSC Ensembl
chr7:16372941..16372958hg18UCSC Ensembl
Innerchr7:16372987..16372912hg18UCSC Ensembl
Outerchr7:16372895..16373004hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864688
SamplesNA12005
Known GenesISPD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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