A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15108422



Internal ID5110238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100995014..101066069hg38UCSC Ensembl
chr14:101461351..101532406hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3871056
hg1971056
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635521
Supporting Variants
SamplesHG02455
Known GenesMIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR134, MIR154, MIR299, MIR300, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR369, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR485, MIR487A, MIR487B, MIR494, MIR495, MIR496, MIR539, MIR541, MIR543, MIR654, MIR655, MIR668, MIR758, MIR889
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15108422
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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