A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358268



Internal ID15205247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126966451..126966485hg38UCSC Ensembl
Innerchr5:126966453..126966481hg38UCSC Ensembl
Outerchr5:126966421..126966515hg38UCSC Ensembl
chr5:126302143..126302177hg19UCSC Ensembl
Innerchr5:126302145..126302173hg19UCSC Ensembl
Outerchr5:126302113..126302207hg19UCSC Ensembl
chr5:126330042..126330076hg18UCSC Ensembl
Innerchr5:126330072..126330044hg18UCSC Ensembl
Outerchr5:126330012..126330106hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8926577, essv8926573, essv8926576, essv8926575, essv8926574, essv8926568, essv8926569, essv8926572, essv8926571
SamplesNA19190, NA18870, NA18519, NA18498, NA19172, NA18871, NA18912, NA18858, NA19116
Known GenesMARCH3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358268
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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