A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838522



Internal ID15007054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160531100..160531101hg38UCSC Ensembl
Innerchr1:160531066..160531135hg38UCSC Ensembl
Outerchr1:160531065..160531136hg38UCSC Ensembl
chr1:160500890..160500891hg19UCSC Ensembl
Innerchr1:160500856..160500925hg19UCSC Ensembl
Outerchr1:160500855..160500926hg19UCSC Ensembl
chr1:158767514..158767515hg18UCSC Ensembl
Innerchr1:158767549..158767480hg18UCSC Ensembl
Outerchr1:158767479..158767550hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310327
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838522
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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