A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659455



Internal ID9925560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116459540..116459670hg38UCSC Ensembl
chr1:117002162..117002292hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6003626, essv5507273, essv6051712, essv6243373, essv6538895, essv6464071, essv6049681, essv5476051, essv6346406, essv6515889, essv6039691, essv5554661, essv5472247, essv6165177, essv6261131, essv6021154, essv5515254, essv5571828, essv6232536, essv5837696, essv6039505, essv5452978, essv6320169, essv5978913, essv6464252, essv5672172, essv6328698, essv6321554, essv5955911, essv6261813, essv6427093, essv5415316, essv6410903, essv5599195, essv5998021, essv5988256, essv5767101, essv5578619, essv6225086, essv5740770, essv5830683, essv5628494, essv6184355, essv5563404, essv5885828, essv5501555, essv6332911, essv5663521, essv5651622, essv6362210, essv6052332, essv5607268, essv5648805, essv5667782, essv6234675, essv6462389, essv5546808, essv5419933, essv5667694, essv5916552, essv5796870, essv5971572, essv5396069, essv5684817, essv5482628, essv5425400, essv6344144, essv6492085, essv6340600, essv5645148, essv6171918, essv5563884
SamplesNA19701, NA20529, NA19703, HG01052, NA19332, NA18507, NA19359, NA19355, NA19393, NA19377, NA19443, NA18510, NA19315, HG01177, NA18942, NA19457, NA19904, NA19384, HG01110, NA19130, HG01134, NA19383, NA19371, NA19235, HG00422, NA19471, NA18520, HG01198, NA19445, NA20533, NA19789, NA19451, HG00443, NA19707, NA19347, NA12878, HG01095, NA19391, NA19655, NA12249, NA12892, NA19338, NA18523, NA19469, NA19012, NA20296, NA19440, NA19390, NA19147, NA18517, NA19712, NA19380, HG01174, NA19835, NA19470, NA19428, NA19311, NA19360, NA19376, NA19078, NA19223, NA19116, NA19711, NA19213, NA20528, NA19900, NA19430, NA18505, NA19129, NA18488, NA19312, NA18623
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659455
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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