A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629404



Internal ID6669544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46587435..46597018hg38UCSC Ensembl
Innerchr12:46587435..46597018hg38UCSC Ensembl
Outerchr12:46587094..46597347hg38UCSC Ensembl
chr12:46981218..46990801hg19UCSC Ensembl
Innerchr12:46981218..46990801hg19UCSC Ensembl
Outerchr12:46980877..46991130hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389584
hg199584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474173, essv14474164, essv14474158, essv14474179, essv14474163, essv14474178, essv14474162, essv14474175, essv14474177, essv14474181, essv14474166, essv14474161, essv14474165, essv14474169, essv14474159, essv14474176, essv14474170, essv14474182, essv14474160, essv14474172, essv14474157, essv14474171, essv14474168, essv14474180, essv14474174, essv14474156, essv14474167
SamplesHG01878, HG00864, HG01846, HG02371, NA19089, NA19072, HG01029, HG01861, HG00479, NA18596, HG01812, HG02394, HG02121, NA18622, NA18644, HG01866, NA18636, HG00631, HG00584, HG02151, HG00672, NA18995, HG02079, NA18614, HG00626, HG00671, HG02512
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629404
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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