A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607619



Internal ID6994551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173659175..173660221hg38UCSC Ensembl
Innerchr5:173659181..173660215hg38UCSC Ensembl
Outerchr5:173659169..173660227hg38UCSC Ensembl
chr5:173086178..173087224hg19UCSC Ensembl
Innerchr5:173086184..173087218hg19UCSC Ensembl
Outerchr5:173086172..173087230hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12135356, essv12135376, essv12135368, essv12135372, essv12135369, essv12135373, essv12135377, essv12135362, essv12135378, essv12135366, essv12135363, essv12135370, essv12135358, essv12135367, essv12135365, essv12135355, essv12135374, essv12135361, essv12135364, essv12135354, essv12135375, essv12135360, essv12135359, essv12135371, essv12135357
SamplesHG03960, HG03738, NA21092, HG03589, NA20894, HG03782, HG02792, HG04100, HG02016, HG03705, NA20589, HG04042, HG03868, HG01950, HG02725, HG03940, HG03778, HG02790, HG01951, HG03779, HG03916, NA19102, HG02774, HG03890, HG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607619
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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