A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402537



Internal ID15249499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150978303..150978337hg38UCSC Ensembl
Innerchr5:150978317..150978321hg38UCSC Ensembl
Outerchr5:150978287..150978351hg38UCSC Ensembl
chr5:150357865..150357899hg19UCSC Ensembl
Innerchr5:150357879..150357883hg19UCSC Ensembl
Outerchr5:150357849..150357913hg19UCSC Ensembl
chr5:150338058..150338092hg18UCSC Ensembl
Innerchr5:150338072..150338076hg18UCSC Ensembl
Outerchr5:150338042..150338106hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927153, essv8927149, essv8927151, essv8927150, essv8927154, essv8927152
SamplesNA18519, NA19138, NA19210, NA18907, NA19129, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402537
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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