A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305463



Internal ID14805725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168817997..168817998hg38UCSC Ensembl
Innerchr5:168817970..168818025hg38UCSC Ensembl
Outerchr5:168817969..168818026hg38UCSC Ensembl
chr5:168245002..168245003hg19UCSC Ensembl
Innerchr5:168244975..168245030hg19UCSC Ensembl
Outerchr5:168244974..168245031hg19UCSC Ensembl
chr5:168177580..168177581hg18UCSC Ensembl
Innerchr5:168177608..168177553hg18UCSC Ensembl
Outerchr5:168177552..168177609hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744019, essv7761081, essv7744789, essv7758144, essv7752730, essv7749438, essv7752536, essv7761671, essv7755888, essv7758414, essv7741409, essv7756334, essv7750612, essv7746546, essv7744564
SamplesNA07037, NA18871, NA18516, NA19257, NA18505, NA18912, NA19190, NA07346, NA18498, NA19102, NA18522, NA19238, NA18510, NA18858, NA18909
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305463
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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