A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616534



Internal ID7003420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18993343..19007758hg38UCSC Ensembl
Innerchr8:18993343..19007758hg38UCSC Ensembl
Outerchr8:18993012..19008098hg38UCSC Ensembl
chr8:18850853..18865268hg19UCSC Ensembl
Innerchr8:18850853..18865268hg19UCSC Ensembl
Outerchr8:18850522..18865608hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3814416
hg1914416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13130964, essv13130977, essv13130976, essv13130987, essv13130991, essv13130967, essv13130994, essv13130989, essv13130988, essv13130983, essv13130974, essv13130990, essv13130986, essv13130969, essv13130970, essv13130975, essv13130985, essv13130984, essv13130972, essv13130979, essv13130982, essv13130965, essv13130963, essv13130992, essv13130993, essv13130966, essv13130980, essv13130968, essv13130995, essv13130973, essv13130971, essv13130978, essv13130981
SamplesNA21111, HG00142, NA21127, HG01359, HG04018, NA20864, NA20507, HG02688, NA20771, HG03705, NA20589, HG01676, HG04206, HG02687, NA20910, HG02278, HG03803, NA20533, HG03862, HG03844, NA21098, NA12234, HG03967, HG01073, HG03625, HG01589, HG04227, HG03809, HG02651, HG02235, HG03998, NA19726, HG02778
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616534
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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