A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586975



Internal ID6974402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101631118..101633231hg38UCSC Ensembl
Innerchr1:101631124..101633225hg38UCSC Ensembl
Outerchr1:101631112..101633237hg38UCSC Ensembl
chr1:102096674..102098787hg19UCSC Ensembl
Innerchr1:102096680..102098781hg19UCSC Ensembl
Outerchr1:102096668..102098793hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382114
hg192114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10034375, essv10034370, essv10034365, essv10034360, essv10034372, essv10034380, essv10034351, essv10034358, essv10034366, essv10034369, essv10034367, essv10034368, essv10034359, essv10034356, essv10034373, essv10034364, essv10034355, essv10034357, essv10034350, essv10034361, essv10034374, essv10034379, essv10034353, essv10034377, essv10034362, essv10034352, essv10034376, essv10034363, essv10034354, essv10034349, essv10034371, essv10034378
SamplesHG02610, HG02496, HG02583, HG02798, NA18877, HG02536, HG03436, HG03086, HG02621, NA20291, HG03209, HG03212, NA19159, HG02819, HG02479, HG02009, HG03547, HG02953, HG02537, HG03301, HG02429, NA18879, HG03078, HG01988, HG03567, HG02255, HG03437, HG02464, NA19741, NA18501, HG02646, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586975
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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