A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587546



Internal ID6627848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152302726..152316499hg38UCSC Ensembl
chr1:152275202..152288975hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3813774
hg1913774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145927, essv10145909, essv10145925, essv10145913, essv10145915, essv10145920, essv10145912, essv10145919, essv10145921, essv10145918, essv10145910, essv10145923, essv10145914, essv10145926, essv10145924, essv10145916, essv10145911, essv10145922, essv10145917
SamplesNA18639, NA20298, HG00115, HG02285, NA19076, HG02087, NA21108, HG00130, NA19451, NA18747, NA19077, HG02090, NA18939, HG00350, HG02089, NA19149, NA19439, NA19078, NA19900
Known GenesFLG, FLG-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587546
Frequency
Sample Size2504
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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