A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643497



Internal ID6683568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4294842..4299793hg38UCSC Ensembl
chr19:4294839..4299790hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384952
hg194952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15980410, essv15980408, essv15980409, essv15980411, essv15980407
SamplesNA20752, HG01525, HG04144, HG01139, NA20534
Known GenesTMIGD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643497
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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