A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592623



Internal ID6979950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137420482..137479331hg38UCSC Ensembl
Innerchr2:137420482..137479331hg38UCSC Ensembl
Outerchr2:137419982..137479831hg38UCSC Ensembl
chr2:138178052..138236901hg19UCSC Ensembl
Innerchr2:138178052..138236901hg19UCSC Ensembl
Outerchr2:138177552..138237401hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3858850
hg1958850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10685955
SamplesNA19023
Known GenesTHSD7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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