A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661442



Internal ID9927547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:59421886..59430113hg38UCSC Ensembl
Outerchr4:59421729..59430266hg38UCSC Ensembl
Innerchr4:60287604..60295831hg19UCSC Ensembl
Outerchr4:60287447..60295984hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg388538
hg198538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv946e199
Supporting Variantsessv6314736, essv6091653, essv5876149, essv6354164, essv6028245, essv6421488, essv5474694, essv5812867, essv6015918, essv5627378, essv6381194, essv5516860, essv6098755, essv6159494, essv6039416, essv5965773, essv6443183, essv6074209, essv5758770, essv5451847, essv6291222, essv5907281, essv5683341, essv5659384, essv5946256, essv5600612, essv6113459, essv6411870, essv5554609, essv5522809, essv6489353, essv5600778, essv6404557, essv5632057, essv5716464, essv5651618, essv5409991, essv6493280, essv5545950, essv6487917, essv6305068, essv5815676, essv6540582, essv6594435, essv6154638, essv5507075, essv5855388, essv6450651, essv5501418, essv6522006, essv6212986, essv5855033, essv6159486, essv5835036, essv5756460, essv5909424, essv5438407, essv5521724, essv5425266, essv6129019
SamplesNA19701, HG01441, NA19703, HG01079, HG01456, NA18530, HG01518, NA12155, NA12341, NA19678, HG01488, HG00702, HG00689, NA18923, NA18635, NA19916, NA19313, HG01083, HG00334, NA19404, HG00512, NA19651, NA20775, HG01495, NA19901, NA18908, HG01124, HG00543, NA19247, NA19070, HG00732, NA19982, HG00533, HG00740, HG00690, HG00613, HG00336, NA19834, NA19473, NA18950, HG00734, NA19435, NA19380, HG01174, HG00607, HG01137, HG01489, HG01342, NA18631, HG00259, NA19716, NA19713, HG00123, NA19780, NA20528, HG00274, NA19004, HG00628, NA19065, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661442
Frequency
Sample Size1151
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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