A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361731



Internal ID15208709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172678069..172678084hg38UCSC Ensembl
Innerchr1:172678045..172678108hg38UCSC Ensembl
Outerchr1:172678030..172678123hg38UCSC Ensembl
chr1:172647209..172647224hg19UCSC Ensembl
Innerchr1:172647185..172647248hg19UCSC Ensembl
Outerchr1:172647170..172647263hg19UCSC Ensembl
chr1:170913832..170913847hg18UCSC Ensembl
Innerchr1:170913871..170913808hg18UCSC Ensembl
Outerchr1:170913793..170913886hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863774, essv7863775
SamplesNA11992, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361731
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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