A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586079



Internal ID6626392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901930..53904078hg38UCSC Ensembl
Innerchr1:53901930..53904078hg38UCSC Ensembl
Outerchr1:53901688..53904347hg38UCSC Ensembl
chr1:54367603..54369751hg19UCSC Ensembl
Innerchr1:54367603..54369751hg19UCSC Ensembl
Outerchr1:54367361..54370020hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932316, essv9932325, essv9932288, essv9932287, essv9932313, essv9932317, essv9932329, essv9932298, essv9932286, essv9932301, essv9932309, essv9932300, essv9932311, essv9932312, essv9932296, essv9932299, essv9932318, essv9932322, essv9932308, essv9932294, essv9932310, essv9932327, essv9932297, essv9932319, essv9932315, essv9932320, essv9932303, essv9932306, essv9932290, essv9932295, essv9932321, essv9932293, essv9932289, essv9932330, essv9932304, essv9932326, essv9932323, essv9932305, essv9932314, essv9932291, essv9932307, essv9932292, essv9932302, essv9932328, essv9932324
SamplesNA19137, HG02496, HG03058, HG03120, HG02810, HG02546, HG03112, HG03410, HG03247, NA18517, NA20362, HG03111, NA19834, NA19257, HG02433, NA19467, HG03457, HG02053, HG03088, HG03054, HG01248, HG01088, NA18856, HG02143, HG03024, NA18916, HG02283, HG03126, NA18522, HG03073, HG02307, HG02545, HG02614, HG02881, HG03363, HG02629, HG02953, NA19431, NA20287, HG03198, HG02679, HG02464, NA19118, HG00641, NA19200
Known GenesDIO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586079
Frequency
Sample Size2504
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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