A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678322



Internal ID15104099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100473039..100473058hg38UCSC Ensembl
Innerchr1:100473035..100473062hg38UCSC Ensembl
Outerchr1:100473016..100473081hg38UCSC Ensembl
chr1:100938595..100938614hg19UCSC Ensembl
Innerchr1:100938591..100938618hg19UCSC Ensembl
Outerchr1:100938572..100938637hg19UCSC Ensembl
chr1:100711183..100711202hg18UCSC Ensembl
Innerchr1:100711206..100711179hg18UCSC Ensembl
Outerchr1:100711160..100711225hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373317
Supporting Variants
SamplesNA19240
Known GenesCDC14A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678322
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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