A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630510



Internal ID7017327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98563022..98569357hg38UCSC Ensembl
Innerchr12:98563522..98568857hg38UCSC Ensembl
Outerchr12:98562022..98570357hg38UCSC Ensembl
chr12:98956800..98963135hg19UCSC Ensembl
Innerchr12:98957300..98962635hg19UCSC Ensembl
Outerchr12:98955800..98964135hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386336
hg196336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14585880, essv14585868, essv14585878, essv14585871, essv14585872, essv14585866, essv14585867, essv14585873, essv14585874, essv14585875, essv14585870, essv14585876, essv14585869, essv14585877, essv14585879
SamplesNA19028, HG03378, NA19020, HG00640, NA19920, NA19171, HG02545, HG00731, HG00732, HG02976, NA19072, HG02983, NA21133, HG03077, NA18505
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630510
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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