A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586797



Internal ID6627106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91882714..91884318hg38UCSC Ensembl
Innerchr1:91882714..91884318hg38UCSC Ensembl
Outerchr1:91882414..91884563hg38UCSC Ensembl
chr1:92348271..92349875hg19UCSC Ensembl
Innerchr1:92348271..92349875hg19UCSC Ensembl
Outerchr1:92347971..92350120hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381605
hg191605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10014205, essv10014202, essv10014203, essv10014204
SamplesHG01403, HG01402, HG01393, HG01323
Known GenesTGFBR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586797
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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