A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937053



Internal ID14999334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113149556..113149565hg38UCSC Ensembl
Innerchr7:113149547..113149572hg38UCSC Ensembl
Outerchr7:113149538..113149581hg38UCSC Ensembl
chr7:112789611..112789620hg19UCSC Ensembl
Innerchr7:112789602..112789627hg19UCSC Ensembl
Outerchr7:112789593..112789636hg19UCSC Ensembl
chr7:112576847..112576856hg18UCSC Ensembl
Innerchr7:112576863..112576838hg18UCSC Ensembl
Outerchr7:112576829..112576872hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405414
Supporting Variants
SamplesNA19225
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937053
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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