A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644401



Internal ID6684468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42530406..42533921hg38UCSC Ensembl
Innerchr19:42530453..42533875hg38UCSC Ensembl
Outerchr19:42530360..42533968hg38UCSC Ensembl
chr19:43034558..43038073hg19UCSC Ensembl
Innerchr19:43034605..43038027hg19UCSC Ensembl
Outerchr19:43034512..43038120hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383516
hg193516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056289, essv16056266, essv16056310, essv16056283, essv16056270, essv16056295, essv16056298, essv16056313, essv16056302, essv16056284, essv16056277, essv16056300, essv16056282, essv16056290, essv16056288, essv16056276, essv16056279, essv16056271, essv16056304, essv16056265, essv16056301, essv16056285, essv16056312, essv16056292, essv16056308, essv16056286, essv16056309, essv16056269, essv16056296, essv16056281, essv16056311, essv16056305, essv16056294, essv16056306, essv16056264, essv16056262, essv16056297, essv16056261, essv16056278, essv16056274, essv16056299, essv16056273, essv16056275, essv16056293, essv16056303, essv16056307, essv16056263, essv16056287, essv16056272, essv16056268, essv16056267, essv16056280, essv16056291, essv16056259, essv16056260
SamplesHG03136, HG02496, NA19248, HG02477, NA19214, NA20278, HG02549, NA19670, HG03046, NA19920, HG02508, HG02471, HG01990, HG03268, NA18505, HG01551, HG03049, HG01363, HG03193, HG03484, NA19917, HG02968, HG02861, NA19351, HG03024, HG03100, HG02595, NA19190, NA19247, NA19153, HG02325, HG01369, HG02611, HG03097, HG03168, HG02971, HG02852, HG01894, HG02624, NA19777, HG03352, HG01259, HG03028, NA19921, HG02923, NA18867, HG03267, NA20289, NA19099, NA18864, HG01886, HG03258, HG02721, HG01125, HG03372
Known GenesLIPE-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644401
Frequency
Sample Size2504
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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