A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629541



Internal ID7016362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53470154..53471401hg38UCSC Ensembl
Innerchr12:53470154..53471401hg38UCSC Ensembl
Outerchr12:53469901..53471559hg38UCSC Ensembl
chr12:53863938..53865185hg19UCSC Ensembl
Innerchr12:53863938..53865185hg19UCSC Ensembl
Outerchr12:53863685..53865343hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14483851, essv14483844, essv14483845, essv14483824, essv14483856, essv14483847, essv14483828, essv14483826, essv14483842, essv14483834, essv14483835, essv14483829, essv14483849, essv14483857, essv14483820, essv14483830, essv14483821, essv14483840, essv14483833, essv14483843, essv14483827, essv14483839, essv14483819, essv14483822, essv14483841, essv14483825, essv14483823, essv14483852, essv14483836, essv14483846, essv14483855, essv14483850, essv14483853, essv14483831, essv14483838, essv14483848, essv14483837, essv14483854, essv14483832
SamplesHG03593, HG03652, HG02648, HG04094, HG03941, HG03772, NA21137, HG03837, HG03603, NA20850, HG03885, HG03911, HG03888, HG04238, NA21129, HG03884, HG03787, HG03760, NA20885, HG03786, HG03945, NA20875, HG03823, NA20867, HG03730, HG03858, HG03625, HG03971, HG04152, HG03653, HG02660, HG03848, HG04134, HG03790, HG04098, HG03856, HG04161, HG03955, HG03989
Known GenesPCBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629541
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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