A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605777



Internal ID6992714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91320542..91328553hg38UCSC Ensembl
Innerchr5:91321042..91328053hg38UCSC Ensembl
Outerchr5:91319542..91329553hg38UCSC Ensembl
chr5:90616359..90624370hg19UCSC Ensembl
Innerchr5:90616859..90623870hg19UCSC Ensembl
Outerchr5:90615359..90625370hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg388012
hg198012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11979671, essv11979686, essv11979694, essv11979666, essv11979691, essv11979668, essv11979665, essv11979670, essv11979680, essv11979644, essv11979667, essv11979685, essv11979654, essv11979688, essv11979693, essv11979674, essv11979655, essv11979681, essv11979652, essv11979645, essv11979690, essv11979682, essv11979683, essv11979657, essv11979648, essv11979679, essv11979651, essv11979678, essv11979689, essv11979653, essv11979660, essv11979659, essv11979677, essv11979646, essv11979692, essv11979696, essv11979662, essv11979663, essv11979647, essv11979656, essv11979672, essv11979669, essv11979687, essv11979695, essv11979658, essv11979673, essv11979675, essv11979664, essv11979684, essv11979649, essv11979650, essv11979661, essv11979676
SamplesHG02890, HG03366, HG03517, HG03241, HG03298, NA18545, NA19819, NA18878, HG03100, HG03297, HG02536, NA19107, HG03082, NA19379, NA19319, NA18916, HG02645, HG02922, NA19130, HG03079, NA19041, HG02461, NA19207, NA20412, HG03267, HG02477, HG02943, NA19707, NA18934, HG02334, HG02678, HG02511, NA19455, NA18915, HG03382, HG03202, HG03451, HG03354, NA20296, HG02813, HG02308, NA19072, HG03473, HG01108, NA20281, HG02814, HG02558, NA20348, HG02971, HG02095, HG03442, HG03049, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605777
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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