A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671091



Internal ID9937196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25822448..25822774hg38UCSC Ensembl
chr1:26148939..26149265hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5578526, essv5485353, essv6516520, essv5664671, essv5587061, essv6339472, essv5999992, essv6001882, essv6069253, essv6245172, essv6484123, essv5833127, essv5397231, essv5769786, essv6231927, essv6151447, essv5440775, essv5717068, essv5884073, essv5637828, essv5877205, essv6008796, essv5422356, essv5541892, essv5769662, essv6301192, essv5954357, essv5956744, essv6412534, essv5754214, essv6251633, essv5852850, essv5916659, essv6277930, essv6403543, essv5597437, essv6065592, essv6504522, essv6355477, essv6361928, essv6368133, essv6126063, essv5588725, essv6079568, essv6333831, essv6394726, essv5622593, essv6289516, essv5784399, essv6061331, essv6385446, essv6506113, essv6523331, essv6500975, essv5857195, essv5594137, essv6339323, essv5712234
SamplesNA18502, NA19703, NA19397, NA18508, NA19332, NA19704, NA20294, NA19819, NA20346, NA19396, NA19373, NA19319, NA19448, NA19198, NA18916, NA18498, NA20287, NA20291, NA19130, NA19404, NA18874, NA19372, NA19371, NA19471, NA19901, NA19189, NA19445, NA20127, NA18908, NA19437, NA19707, NA19462, NA18910, NA18871, NA18907, NA19654, NA19453, NA18912, HG01101, NA18853, NA19099, NA19257, NA19452, NA19395, NA19436, NA19440, NA19108, NA18517, NA19712, NA19428, NA20281, NA19360, NA19398, NA19713, NA18873, NA19129, NA19429, NA19346
Known GenesLOC646471, MTFR1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671091
Frequency
Sample Size1151
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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