A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623908



Internal ID6664075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79175455..79176700hg38UCSC Ensembl
Innerchr10:79175456..79176700hg38UCSC Ensembl
Outerchr10:79175455..79176701hg38UCSC Ensembl
chr10:80935212..80936457hg19UCSC Ensembl
Innerchr10:80935213..80936457hg19UCSC Ensembl
Outerchr10:80935212..80936458hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13867047, essv13867034, essv13867048, essv13867039, essv13867040, essv13867043, essv13867045, essv13867037, essv13867046, essv13867036, essv13867035, essv13867041, essv13867042, essv13867033, essv13867038, essv13867044
SamplesHG02597, NA21110, HG03711, HG00187, NA20861, HG00371, HG00332, HG01527, HG02224, HG04141, HG00268, HG01281, HG01260, NA12156, HG00324, NA20804
Known GenesZMIZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623908
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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