A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638942



Internal ID6679039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70029485..70054508hg38UCSC Ensembl
chr16:70063388..70088411hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3825024
hg1925024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15503902, essv15503897, essv15503886, essv15503893, essv15503878, essv15503875, essv15503882, essv15503895, essv15503891, essv15503880, essv15503887, essv15503877, essv15503903, essv15503884, essv15503888, essv15503894, essv15503876, essv15503889, essv15503883, essv15503899, essv15503898, essv15503879, essv15503874, essv15503892, essv15503885, essv15503896, essv15503890, essv15503881, essv15503901, essv15503900, essv15503904
SamplesHG01372, HG03861, NA19089, HG01444, HG04026, HG03394, HG00479, HG03159, HG02360, NA18967, HG03193, HG03793, NA18973, HG03971, HG02757, HG01308, HG03919, NA19731, NA19175, HG02266, HG02771, NA21093, NA18974, NA12272, HG02819, HG01945, HG03594, NA19740, HG02188, HG03730, HG01980
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638942
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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