A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623072



Internal ID6663240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44835801..44865096hg38UCSC Ensembl
chr10:45331249..45360544hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3829296
hg1929296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13765079, essv13765080, essv13765077, essv13765094, essv13765076, essv13765096, essv13765091, essv13765088, essv13765089, essv13765081, essv13765093, essv13765086, essv13765078, essv13765097, essv13765090, essv13765087, essv13765099, essv13765098, essv13765095, essv13765092, essv13765085, essv13765083, essv13765082, essv13765084, essv13765075
SamplesHG01624, HG00257, HG01456, HG01461, HG01704, HG00097, HG01070, HG00122, HG01177, NA20513, HG00120, HG01767, HG01121, HG00108, HG01384, HG01669, HG01447, HG01777, HG01073, HG01680, HG01131, HG01785, HG01606, HG02238, HG01061
Known GenesTMEM72-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623072
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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