A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643344



Internal ID6683424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:286841..307454hg38UCSC Ensembl
chr19:286841..307454hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820614
hg1920614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961924, essv15961926, essv15961925
SamplesHG03986, HG00422, HG03837
Known GenesMIER2, PPAP2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643344
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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