A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv536e214



Internal ID22756430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75523984..75544656hg38UCSC Ensembl
chr16:75557882..75578554hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3820673
hg1920673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639099, esv3639098
SamplesNA18998, NA19701, HG01521, HG03121, HG03052, HG01860, HG02648, HG00729, NA19350, HG01518, NA18510, HG03436, HG01325, HG03499, NA19916, HG02860, NA20540, HG01083, NA18498, HG04131, HG02489, NA20811, NA19189, NA19209, NA18908, NA19200, HG00743, HG02009, NA12777, NA18951, HG03132, NA20858, NA19670, HG03511, NA19006, HG00556, NA20862, HG00584, NA18579, HG03081, NA20876, NA18566, HG01102, HG03382, HG03713, HG03397, NA19113, HG03634, NA12546, HG01589, HG04186, HG02721, NA20870, HG01866, HG02317, HG02814, HG01785, NA19248, HG04140, HG00329, HG02235, HG02938, HG02676, NA18876, HG01111, HG02851, NA19063, NA18740, NA18622, HG00553, NA18997
Known GenesCHST5, TMEM231
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv536e214
Frequency
Sample Size2504
Observed Gain71
Observed Loss0
Observed Complex0
Frequencyn/a


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