A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584982



Internal ID6972506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:837710..917284hg38UCSC Ensembl
chr1:773090..852664hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3879575
hg1979575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9839445, essv9839468, essv9839452, essv9839465, essv9839457, essv9839431, essv9839444, essv9839430, essv9839462, essv9839432, essv9839450, essv9839454, essv9839453, essv9839463, essv9839473, essv9839479, essv9839455, essv9839467, essv9839481, essv9839475, essv9839446, essv9839482, essv9839477, essv9839449, essv9839476, essv9839460, essv9839433, essv9839447, essv9839436, essv9839435, essv9839459, essv9839484, essv9839428, essv9839470, essv9839478, essv9839466, essv9839474, essv9839442, essv9839472, essv9839469, essv9839443, essv9839439, essv9839464, essv9839434, essv9839440, essv9839438, essv9839458, essv9839471, essv9839427, essv9839451, essv9839456, essv9839429, essv9839441, essv9839461, essv9839437, essv9839480, essv9839448, essv9839483, essv9839426
SamplesNA18947, HG00766, HG00457, NA18639, HG02017, HG02384, HG00879, NA20359, HG00663, HG02383, NA18635, NA18567, NA18571, HG01840, NA19079, HG00867, HG02512, NA18990, NA18557, NA19025, HG00675, HG00543, NA18951, HG01867, NA19070, HG01871, NA19006, HG00557, HG01857, HG00475, NA18572, HG00692, NA18573, HG00690, NA18553, HG00463, NA18535, NA18564, HG01798, NA19083, HG00620, HG04141, HG02181, HG02398, HG00614, HG00513, HG02373, HG00446, HG02401, HG01868, HG01028, HG02392, HG02116, NA18972, HG02353, HG02028, NA18989, NA18620, HG00593
Known GenesFAM41C, LINC01128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584982
Frequency
Sample Size2504
Observed Gain59
Observed Loss0
Observed Complex0
Frequencyn/a


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