A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9613002



Internal ID13368248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:166826791..166826810hg38UCSC Ensembl
Innerchr3:166826787..166826814hg38UCSC Ensembl
Outerchr3:166826768..166826833hg38UCSC Ensembl
chr3:166544579..166544598hg19UCSC Ensembl
Innerchr3:166544575..166544602hg19UCSC Ensembl
Outerchr3:166544556..166544621hg19UCSC Ensembl
chr3:168027273..168027292hg18UCSC Ensembl
Innerchr3:168027296..168027269hg18UCSC Ensembl
Outerchr3:168027250..168027315hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3349688
Supporting Variants
SamplesNA12045
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9613002
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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