A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388517



Internal ID15235484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138920150..138920254hg38UCSC Ensembl
Innerchr7:138920157..138920247hg38UCSC Ensembl
Outerchr7:138920143..138920261hg38UCSC Ensembl
chr7:138604896..138605000hg19UCSC Ensembl
Innerchr7:138604903..138604993hg19UCSC Ensembl
Outerchr7:138604889..138605007hg19UCSC Ensembl
chr7:138255436..138255540hg18UCSC Ensembl
Innerchr7:138255443..138255533hg18UCSC Ensembl
Outerchr7:138255429..138255547hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671412, essv8671409, essv8671411, essv8671410
SamplesNA19238, NA19239, NA12892, NA19240
Known GenesKIAA1549
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388517
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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