A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588046



Internal ID6628346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179095237..179097591hg38UCSC Ensembl
Innerchr1:179095255..179097573hg38UCSC Ensembl
Outerchr1:179095219..179097609hg38UCSC Ensembl
chr1:179064372..179066726hg19UCSC Ensembl
Innerchr1:179064390..179066708hg19UCSC Ensembl
Outerchr1:179064354..179066744hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382355
hg192355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10196816, essv10196815
SamplesHG00553, NA19777
Known GenesTOR3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588046
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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