A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586070



Internal ID6973589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53533696..53536992hg38UCSC Ensembl
Innerchr1:53533700..53536988hg38UCSC Ensembl
Outerchr1:53533692..53536996hg38UCSC Ensembl
chr1:53999369..54002665hg19UCSC Ensembl
Innerchr1:53999373..54002661hg19UCSC Ensembl
Outerchr1:53999365..54002669hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383297
hg193297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932193, essv9932194, essv9932188, essv9932196, essv9932189, essv9932185, essv9932181, essv9932182, essv9932187, essv9932190, essv9932184, essv9932183, essv9932191, essv9932195, essv9932186, essv9932192
SamplesHG03366, HG03121, NA20294, HG02054, HG03224, NA19130, HG02502, HG03363, HG02449, HG03472, HG03301, HG02445, NA18853, NA19439, NA19312, HG03118
Known GenesGLIS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586070
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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