A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358272



Internal ID15205251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24150431..24150438hg38UCSC Ensembl
Innerchr5:24150422..24150445hg38UCSC Ensembl
Outerchr5:24150415..24150452hg38UCSC Ensembl
chr5:24150540..24150547hg19UCSC Ensembl
Innerchr5:24150531..24150554hg19UCSC Ensembl
Outerchr5:24150524..24150561hg19UCSC Ensembl
chr5:24186297..24186304hg18UCSC Ensembl
Innerchr5:24186311..24186288hg18UCSC Ensembl
Outerchr5:24186281..24186318hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8923707, essv8923694, essv8923700, essv8923711, essv8923691, essv8923704, essv8923710, essv8923697, essv8923695, essv8923721, essv8923719, essv8923712, essv8923718, essv8923702, essv8923708, essv8923705, essv8923698, essv8923693, essv8923715, essv8923706, essv8923701, essv8923709, essv8923699, essv8923696, essv8923722, essv8923720, essv8923717, essv8923713, essv8923716
SamplesNA18502, NA11829, NA12414, NA11931, NA12045, NA18959, NA18870, NA07346, NA18550, NA19138, NA18964, NA18520, NA10847, NA18537, NA19114, NA18499, NA18856, NA19099, NA19257, NA18555, NA19225, NA18542, NA19147, NA07037, NA18501, NA18609, NA18505, NA19129, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358272
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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