A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390468



Internal ID15237435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188522907..188522916hg38UCSC Ensembl
Innerchr1:188522907..188522916hg38UCSC Ensembl
Outerchr1:188522898..188522925hg38UCSC Ensembl
chr1:188492038..188492047hg19UCSC Ensembl
Innerchr1:188492038..188492047hg19UCSC Ensembl
Outerchr1:188492029..188492056hg19UCSC Ensembl
chr1:186758661..186758670hg18UCSC Ensembl
Innerchr1:186758670..186758661hg18UCSC Ensembl
Outerchr1:186758652..186758679hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863789
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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