A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449748



Internal ID15296696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71437537..71437546hg38UCSC Ensembl
Innerchr17:71437539..71437544hg38UCSC Ensembl
Outerchr17:71437535..71437548hg38UCSC Ensembl
chr17:69433678..69433687hg19UCSC Ensembl
Innerchr17:69433680..69433685hg19UCSC Ensembl
Outerchr17:69433676..69433689hg19UCSC Ensembl
chr17:66945273..66945282hg18UCSC Ensembl
Innerchr17:66945275..66945280hg18UCSC Ensembl
Outerchr17:66945271..66945284hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865994
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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