A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644400



Internal ID6684467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42530390..42531854hg38UCSC Ensembl
Innerchr19:42530440..42531804hg38UCSC Ensembl
Outerchr19:42530260..42531984hg38UCSC Ensembl
chr19:43034542..43036006hg19UCSC Ensembl
Innerchr19:43034592..43035956hg19UCSC Ensembl
Outerchr19:43034412..43036136hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056228, essv16056248, essv16056227, essv16056257, essv16056234, essv16056237, essv16056240, essv16056253, essv16056250, essv16056202, essv16056217, essv16056203, essv16056247, essv16056211, essv16056231, essv16056218, essv16056242, essv16056229, essv16056243, essv16056204, essv16056208, essv16056206, essv16056205, essv16056251, essv16056233, essv16056230, essv16056239, essv16056216, essv16056246, essv16056221, essv16056222, essv16056219, essv16056249, essv16056226, essv16056255, essv16056209, essv16056215, essv16056220, essv16056223, essv16056213, essv16056256, essv16056225, essv16056214, essv16056210, essv16056207, essv16056254, essv16056238, essv16056252, essv16056241, essv16056224, essv16056258, essv16056236, essv16056244, essv16056245, essv16056235, essv16056201, essv16056212, essv16056232
SamplesHG03136, HG02496, NA19248, HG02477, NA19214, NA20278, NA20516, HG02549, NA19670, HG03046, NA19920, HG02508, HG02471, HG01990, HG03268, NA18505, HG01551, HG03049, HG01363, HG03193, HG03484, HG01414, HG02968, HG02861, NA19351, HG03024, HG03100, HG02595, NA19190, NA19247, NA19153, HG02325, HG00185, HG01369, HG02611, HG03097, HG03168, HG02971, HG02852, HG01894, HG01531, 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)esv3644400
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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