A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750401



Internal ID15122665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28973617..28973618hg38UCSC Ensembl
Innerchr7:28973586..28973649hg38UCSC Ensembl
Outerchr7:28973585..28973650hg38UCSC Ensembl
chr7:29013233..29013234hg19UCSC Ensembl
Innerchr7:29013202..29013265hg19UCSC Ensembl
Outerchr7:29013201..29013266hg19UCSC Ensembl
chr7:28979758..28979759hg18UCSC Ensembl
Innerchr7:28979790..28979727hg18UCSC Ensembl
Outerchr7:28979726..28979791hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304919
Supporting Variants
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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