A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658589



Internal ID9578008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5996986..5997407hg38UCSC Ensembl
chr18:5996985..5997406hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5672807, essv6006227, essv6433011, essv5401274, essv5628896, essv5958871, essv6255248, essv6295039, essv5409813, essv6248847, essv5954131, essv5489422, essv5603336, essv6344892, essv6392617, essv5980447, essv6213113, essv6415185, essv5494971, essv5545924, essv5561847, essv6113308, essv6213275, essv5484868, essv5792619, essv6019960, essv5549781, essv5742567, essv5437888, essv6324873, essv6058092, essv6425362, essv6164940, essv6268312, essv6041970, essv5481847, essv6543702, essv6148366, essv5645439, essv5641879, essv6543381, essv6123724, essv5583659, essv5408768, essv5684555, essv6456564, essv6481890, essv5700757, essv6455483, essv6216413, essv6147579, essv6048729, essv5951641, essv6097269, essv5834428, essv5453039, essv6084783, essv6252000, essv6440961, essv5447279, essv6150869, essv6173036, essv5569115, essv5450812, essv5467068, essv5851357, essv5906332, essv5462966, essv6554412, essv5534474, essv5830160, essv5709338, essv6173669, essv5511858, essv5550262, essv6302865, essv6321290, essv6524289, essv5407335, essv6525480, essv6170758, essv5487996, essv6412335, essv5591558, essv6493945, essv6510622
SamplesNA18870, NA18861, NA19904, NA18871, NA19114, HG01342, NA18501, NA19311, NA18511, NA19319, NA18516, NA19317, NA19453, NA19451, NA12828, NA18947, HG01174, NA19449, NA18489, NA19210, NA19379, NA19257, NA12287, NA19147, NA19438, HG01107, NA18912, NA19383, NA19917, NA19443, NA19900, NA19396, NA18856, NA19440, NA19908, NA19256, NA19835, NA18916, HG01187, NA19457, NA19324, NA19190, NA19360, NA19377, NA19380, NA19189, NA19374, NA19393, NA19373, NA19384, NA18522, NA19238, NA19901, NA19704, NA18858, NA19347, NA19131, NA19382, NA19462, NA19921, NA18909, NA12749, NA20276, NA19431, NA20287, NA19434, NA19818, NA19099, HG01390, NA19452, NA19225, NA18917, NA19399, NA18499, NA19198, HG01108, NA19470, NA11829, NA19171, NA19240, NA18853, NA19381, NA19448, NA19200, NA18519, NA19439
Known GenesL3MBTL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658589
Frequency
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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