A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587675



Internal ID6975097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158547359..158551889hg38UCSC Ensembl
chr1:158517149..158521679hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384531
hg194531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10159968, essv10160014, essv10159981, essv10160019, essv10160010, essv10160000, essv10159978, essv10159998, essv10159986, essv10160017, essv10159965, essv10159974, essv10159962, essv10160003, essv10159977, essv10159982, essv10160011, essv10159997, essv10159969, essv10160007, essv10159988, essv10160013, essv10159961, essv10159994, essv10159996, essv10159976, essv10159983, essv10159971, essv10160012, essv10159980, essv10159975, essv10160020, essv10160009, essv10159999, essv10159995, essv10160002, essv10160015, essv10160016, essv10160008, essv10160006, essv10159972, essv10160021, essv10159991, essv10159973, essv10160005, essv10159992, essv10160001, essv10159987, essv10159970, essv10159989, essv10159964, essv10160018, essv10159993, essv10159984, essv10160004, essv10159979, essv10159963, essv10159967, essv10159985, essv10159990, essv10159966
SamplesHG01985, HG03096, HG03121, NA19397, NA19399, HG03247, NA18877, NA19350, HG02870, NA19393, HG03297, HG03139, NA19443, NA19098, NA18870, HG02769, NA19374, HG03086, NA19201, HG03385, HG03485, HG03040, HG03079, HG03556, HG03212, HG03045, NA19207, HG03195, NA19385, NA19317, NA19036, HG03380, HG03583, HG02943, HG02977, HG02439, HG02450, HG03081, HG03382, NA19320, NA19095, HG01896, NA19035, NA19401, HG03028, HG03437, NA19473, HG02837, NA20351, HG03433, NA19324, NA19360, HG03112, HG03442, HG01912, NA19351, HG03049, HG03063, NA19102, HG03410, NA19429
Known GenesOR6Y1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587675
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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