A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671410



Internal ID13732502
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 StatusS
Merged Variantsesv3388517
Supporting Variants
SamplesNA12892
Known GenesKIAA1549
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671410
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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