A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642402



Internal ID6682483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45045452..45046138hg38UCSC Ensembl
Innerchr18:45045453..45046138hg38UCSC Ensembl
Outerchr18:45045452..45046139hg38UCSC Ensembl
chr18:42625417..42626103hg19UCSC Ensembl
Innerchr18:42625418..42626103hg19UCSC Ensembl
Outerchr18:42625417..42626104hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15856921, essv15856915, essv15856910, essv15856925, essv15856916, essv15856912, essv15856911, essv15856914, essv15856913, essv15856920, essv15856927, essv15856918, essv15856919, essv15856926, essv15856917, essv15856922, essv15856923, essv15856924
SamplesHG02107, HG02882, HG02330, NA19026, NA19819, HG01941, NA18511, HG01098, NA20412, HG02012, NA18916, NA19190, HG02449, NA20348, NA18498, NA19238, HG02586, HG02315
Known GenesSETBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642402
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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