A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593914



Internal ID6981236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197893560..197896855hg38UCSC Ensembl
chr2:198758284..198761579hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383296
hg193296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815888, essv10815884, essv10815889, essv10815879, essv10815871, essv10815893, essv10815875, essv10815856, essv10815887, essv10815869, essv10815872, essv10815878, essv10815894, essv10815864, essv10815866, essv10815891, essv10815867, essv10815877, essv10815881, essv10815865, essv10815876, essv10815890, essv10815857, essv10815880, essv10815883, essv10815870, essv10815855, essv10815892, essv10815868, essv10815882, essv10815886, essv10815860, essv10815885, essv10815873, essv10815874, essv10815858, essv10815862, essv10815859, essv10815861, essv10815863
SamplesHG00096, HG00114, HG00304, HG00143, NA11829, HG01773, HG00341, HG00150, NA12400, HG01513, HG01506, HG01325, HG01366, NA19764, NA20795, HG01459, HG00330, NA20769, NA11918, HG00355, HG01510, HG00311, HG00158, NA12761, NA19383, HG01149, HG01762, HG00141, NA12546, NA20522, HG00285, HG00638, NA12874, HG01765, HG01577, HG00174, HG00186, HG02291, NA20826, NA11832
Known GenesPLCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593914
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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