A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736127



Internal ID14811844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7913236..7913382hg38UCSC Ensembl
Outerchr1:7913036..7913582hg38UCSC Ensembl
Innerchr1:7973296..7973442hg19UCSC Ensembl
Outerchr1:7973096..7973642hg19UCSC Ensembl
Innerchr1:7895883..7896029hg18UCSC Ensembl
Outerchr1:7895683..7896229hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38547
hg19547
hg18547
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302892
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736127
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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