A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644407



Internal ID6684474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42738606..42795111hg38UCSC Ensembl
chr19:43242758..43299263hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856506
hg1956506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056356, essv16056346, essv16056333, essv16056352, essv16056360, essv16056329, essv16056343, essv16056326, essv16056330, essv16056364, essv16056332, essv16056348, essv16056363, essv16056342, essv16056354, essv16056365, essv16056340, essv16056339, essv16056338, essv16056351, essv16056366, essv16056349, essv16056327, essv16056358, essv16056341, essv16056335, essv16056344, essv16056328, essv16056331, essv16056359, essv16056337, essv16056334, essv16056361, essv16056368, essv16056355, essv16056336, essv16056362, essv16056353, essv16056350, essv16056345, essv16056357, essv16056367, essv16056347
SamplesHG00881, HG04096, HG00121, NA19664, HG00351, HG00766, NA20802, NA12751, NA19684, HG02215, NA20356, NA12750, HG00337, HG00327, HG00127, HG02153, HG01177, HG03905, NA19649, NA11918, HG00158, HG04033, HG00281, HG00379, HG02736, HG02409, HG01796, HG00273, HG01791, NA12778, HG00240, HG02501, NA12272, NA20520, NA07051, HG00256, HG01765, NA20334, HG00759, NA12154, HG02406, HG03886, HG01507
Known GenesPSG3, PSG8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644407
Frequency
Sample Size2504
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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