A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417208



Internal ID15264166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168410407..168410557hg38UCSC Ensembl
Innerchr1:168410406..168410558hg38UCSC Ensembl
Outerchr1:168410297..168410677hg38UCSC Ensembl
chr1:168379645..168379795hg19UCSC Ensembl
Innerchr1:168379644..168379796hg19UCSC Ensembl
Outerchr1:168379535..168379915hg19UCSC Ensembl
chr1:166646269..166646419hg18UCSC Ensembl
Innerchr1:166646420..166646268hg18UCSC Ensembl
Outerchr1:166646159..166646539hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38151
hg19151
hg18151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808926
SamplesNA12878
Known GenesLOC100505918
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417208
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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