A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588049



Internal ID6628349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179283082..179297255hg38UCSC Ensembl
Innerchr1:179283082..179297255hg38UCSC Ensembl
Outerchr1:179282582..179297755hg38UCSC Ensembl
chr1:179252217..179266390hg19UCSC Ensembl
Innerchr1:179252217..179266390hg19UCSC Ensembl
Outerchr1:179251717..179266890hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3814174
hg1914174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10196821
SamplesNA18638
Known GenesSOAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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