A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302892



Internal ID15149840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7913135..7913482hg38UCSC Ensembl
Innerchr1:7913235..7913382hg38UCSC Ensembl
Outerchr1:7913035..7913582hg38UCSC Ensembl
chr1:7973195..7973542hg19UCSC Ensembl
Innerchr1:7973295..7973442hg19UCSC Ensembl
Outerchr1:7973095..7973642hg19UCSC Ensembl
chr1:7895782..7896129hg18UCSC Ensembl
Innerchr1:7895882..7896029hg18UCSC Ensembl
Outerchr1:7895682..7896229hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38348
hg19348
hg18348
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736127
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302892
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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