A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652037



Internal ID15101332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11373456..11374474hg38UCSC Ensembl
Innerchr1:11373456..11374474hg38UCSC Ensembl
Outerchr1:11373270..11375061hg38UCSC Ensembl
chr1:11433513..11434531hg19UCSC Ensembl
Innerchr1:11433513..11434531hg19UCSC Ensembl
Outerchr1:11433327..11435118hg19UCSC Ensembl
chr1:11356100..11357118hg18UCSC Ensembl
Innerchr1:11356100..11357118hg18UCSC Ensembl
Outerchr1:11355914..11357705hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381019
hg191019
hg181019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329848
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652037
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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