A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639962



Internal ID6680052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11973639..11978532hg38UCSC Ensembl
chr17:11876956..11881849hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384894
hg194894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15612863, essv15612877, essv15612893, essv15612876, essv15612868, essv15612878, essv15612886, essv15612882, essv15612873, essv15612864, essv15612888, essv15612871, essv15612866, essv15612867, essv15612881, essv15612869, essv15612887, essv15612883, essv15612884, essv15612865, essv15612885, essv15612875, essv15612891, essv15612889, essv15612874, essv15612890, essv15612879, essv15612880, essv15612870, essv15612872, essv15612892
SamplesHG03753, HG02012, HG02769, HG03199, HG03135, NA20320, HG02561, HG02642, HG02427, NA20127, HG03169, NA19403, NA18933, HG03457, HG03775, HG03294, NA19114, HG03476, HG03078, HG02309, HG01866, HG01205, HG03473, HG01108, NA20281, NA19143, HG03112, HG02970, HG03410, HG02679, NA19214
Known GenesZNF18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639962
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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