A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323603



Internal ID14823884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81846364..81846374hg38UCSC Ensembl
Innerchr1:81846356..81846382hg38UCSC Ensembl
Outerchr1:81846343..81846392hg38UCSC Ensembl
chr1:82312049..82312059hg19UCSC Ensembl
Innerchr1:82312041..82312067hg19UCSC Ensembl
Outerchr1:82312028..82312077hg19UCSC Ensembl
chr1:82084637..82084647hg18UCSC Ensembl
Innerchr1:82084655..82084629hg18UCSC Ensembl
Outerchr1:82084616..82084665hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899912, essv8899944, essv8899940, essv8899905, essv8899923, essv8899916, essv8899907, essv8899909, essv8899929, essv8899908, essv8899935, essv8899925, essv8899939, essv8899914, essv8899943, essv8899927, essv8899928, essv8899921, essv8899906, essv8899918, essv8899933, essv8899924, essv8899942, essv8899931, essv8899919, essv8899911, essv8899922, essv8899910, essv8899920, essv8899917, essv8899932, essv8899941, essv8899930, essv8899938, essv8899934, essv8899913, essv8899936
SamplesNA18870, NA12154, NA18861, NA07037, NA19114, NA18501, NA19093, NA11931, NA12776, NA07051, NA19257, NA12414, NA18912, NA18508, NA07357, NA12761, NA11831, NA18916, NA12144, NA12006, NA07346, NA19129, NA18498, NA18502, NA18504, NA18858, NA10851, NA19138, NA12749, NA12156, NA19099, NA12003, NA12045, NA11829, NA12717, NA18519, NA07000
Known GenesLPHN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323603
Frequency
Sample Size185
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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