A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864748



Internal ID13317344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99151459..99151468hg38UCSC Ensembl
Innerchr7:99151461..99151466hg38UCSC Ensembl
Outerchr7:99151457..99151470hg38UCSC Ensembl
chr7:98749082..98749091hg19UCSC Ensembl
Innerchr7:98749084..98749089hg19UCSC Ensembl
Outerchr7:98749080..98749093hg19UCSC Ensembl
chr7:98587018..98587027hg18UCSC Ensembl
Innerchr7:98587020..98587025hg18UCSC Ensembl
Outerchr7:98587016..98587029hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446001
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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