A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596543



Internal ID6983857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72730924..72736453hg38UCSC Ensembl
chr3:72780075..72785604hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg385530
hg195530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11038699, essv11038756, essv11038758, essv11038725, essv11038772, essv11038714, essv11038731, essv11038710, essv11038762, essv11038720, essv11038776, essv11038742, essv11038735, essv11038706, essv11038703, essv11038736, essv11038697, essv11038766, essv11038775, essv11038749, essv11038768, essv11038726, essv11038694, essv11038702, essv11038767, essv11038733, essv11038719, essv11038716, essv11038707, essv11038750, essv11038754, essv11038771, essv11038737, essv11038763, essv11038777, essv11038764, essv11038730, essv11038718, essv11038769, essv11038748, essv11038744, essv11038727, essv11038743, essv11038759, essv11038760, essv11038717, essv11038695, essv11038738, essv11038757, essv11038724, essv11038715, essv11038709, essv11038732, essv11038729, essv11038765, essv11038774, essv11038701, essv11038723, essv11038728, essv11038712, essv11038704, essv11038708, essv11038745, essv11038753, essv11038700, essv11038741, essv11038696, essv11038773, essv11038722, essv11038746, essv11038770, essv11038739, essv11038734, essv11038752, essv11038751, essv11038747, essv11038711, essv11038713, essv11038740, essv11038698, essv11038721, essv11038761, essv11038755, essv11038705
SamplesHG00189, NA20761, NA19794, HG03548, HG02433, HG02323, NA20294, HG01802, NA18504, NA20332, NA19684, NA20507, HG01704, HG02895, NA19446, HG00138, NA18519, NA18489, HG02087, NA20795, NA19916, NA19771, NA19384, NA20291, NA11930, HG03209, HG00281, HG04214, HG02502, NA19189, HG02946, HG02715, HG03048, HG03169, NA12777, NA19908, HG03363, HG03088, HG02090, NA18933, NA19455, NA20519, HG01311, HG01414, HG03571, HG01497, NA19338, HG03046, HG00146, NA19756, HG00463, HG02635, HG00240, HG03567, HG03064, HG02813, NA19017, HG02613, NA19108, HG03367, NA12046, HG04099, NA21095, HG01260, HG03473, HG00319, HG01108, HG01489, HG02771, NA20357, NA19323, HG01577, HG02971, NA19248, HG02095, NA12749, HG03060, HG02239, NA19726, NA20528, HG02051, HG03162, HG03303, HG00553
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596543
Frequency
Sample Size2504
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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