A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447133



Internal ID15294083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139137864..139139262hg38UCSC Ensembl
Innerchr5:139138262..139138864hg38UCSC Ensembl
Outerchr5:139136864..139140262hg38UCSC Ensembl
chr5:138473553..138474951hg19UCSC Ensembl
Innerchr5:138473951..138474553hg19UCSC Ensembl
Outerchr5:138472553..138475951hg19UCSC Ensembl
chr5:138501452..138502850hg18UCSC Ensembl
Innerchr5:138502452..138501850hg18UCSC Ensembl
Outerchr5:138500452..138503850hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694582
SamplesNA19239
Known GenesSIL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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