A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927153



Internal ID13886624
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 StatusS
Merged Variantsesv3402537
Supporting Variants
SamplesNA18519
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927153
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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