A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438453



Internal ID15285406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93857708..93858206hg38UCSC Ensembl
Innerchr1:93857707..93858207hg38UCSC Ensembl
Outerchr1:93856708..93859206hg38UCSC Ensembl
chr1:94323264..94323762hg19UCSC Ensembl
Innerchr1:94323263..94323763hg19UCSC Ensembl
Outerchr1:94322264..94324762hg19UCSC Ensembl
chr1:94095852..94096350hg18UCSC Ensembl
Innerchr1:94096351..94095851hg18UCSC Ensembl
Outerchr1:94094852..94097350hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692429
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438453
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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