A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599101



Internal ID6639367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191293415..191295877hg38UCSC Ensembl
Innerchr3:191293416..191295877hg38UCSC Ensembl
Outerchr3:191293415..191295878hg38UCSC Ensembl
chr3:191011204..191013666hg19UCSC Ensembl
Innerchr3:191011205..191013666hg19UCSC Ensembl
Outerchr3:191011204..191013667hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382463
hg192463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11271001, essv11271029, essv11271018, essv11271022, essv11270990, essv11271007, essv11270989, essv11270995, essv11271003, essv11270997, essv11271017, essv11271025, essv11270999, essv11271011, essv11271008, essv11271019, essv11271032, essv11271012, essv11271021, essv11271026, essv11271023, essv11270994, essv11270993, essv11271013, essv11271006, essv11271000, essv11271015, essv11270991, essv11271027, essv11271033, essv11270998, essv11271024, essv11271004, essv11271028, essv11270996, essv11271002, essv11271031, essv11270992, essv11271020, essv11271030, essv11271009, essv11271014, essv11271016, essv11271005, essv11271010
SamplesHG01985, HG02339, HG02496, HG02419, HG02870, HG03455, NA18878, HG03297, NA20346, HG02536, NA19314, NA18510, HG03478, HG02325, NA19119, HG03485, HG03209, NA19651, NA18868, HG03380, HG03225, HG02716, NA19462, HG03291, HG01882, HG02322, NA20126, HG01889, HG02817, HG03078, HG03451, HG02979, NA19257, NA19225, NA19436, NA20296, NA19834, NA19256, NA19149, HG02501, NA19380, NA19323, HG01912, HG02465, HG01695
Known GenesUTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599101
Frequency
Sample Size2504
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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