A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616535



Internal ID6656731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18996076..19001702hg38UCSC Ensembl
Innerchr8:18996076..19001702hg38UCSC Ensembl
Outerchr8:18995967..19001778hg38UCSC Ensembl
chr8:18853586..18859212hg19UCSC Ensembl
Innerchr8:18853586..18859212hg19UCSC Ensembl
Outerchr8:18853477..18859288hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385627
hg195627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13131025, essv13131031, essv13131044, essv13131043, essv13131035, essv13131022, essv13131014, essv13130999, essv13131030, essv13131007, essv13131033, essv13131032, essv13131018, essv13131000, essv13131004, essv13130998, essv13131041, essv13131005, essv13131029, essv13131026, essv13131021, essv13131011, essv13131020, essv13131016, essv13131037, essv13131009, essv13131010, essv13131017, essv13131036, essv13131013, essv13131040, essv13131028, essv13131012, essv13131045, essv13131027, essv13130997, essv13131039, essv13130996, essv13131019, essv13131038, essv13131003, essv13131002, essv13131046, essv13131023, essv13131047, essv13131034, essv13131006, essv13131015, essv13131048, essv13131042, essv13131008, essv13131024, essv13131001
SamplesHG02715, NA19445, HG01359, HG03705, NA20771, NA19222, NA21098, HG03967, HG03380, NA19474, HG02778, HG02583, HG03039, NA19438, HG03803, NA19726, NA20533, HG04206, NA21111, HG03054, NA21127, HG03862, HG03844, NA19429, HG02763, HG03520, HG01589, HG04227, NA12234, NA20589, NA19324, NA19395, HG03998, NA19703, NA20910, HG02278, NA20864, HG01073, HG01676, HG02651, HG02235, HG02688, NA20298, NA19475, NA19452, NA20507, HG04018, HG02687, HG03259, HG00142, HG03809, NA19448, HG03625
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616535
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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