A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692344



Internal ID15067227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:362250..368348hg38UCSC Ensembl
Innerchr1:363250..367348hg38UCSC Ensembl
Outerchr1:361250..369348hg38UCSC Ensembl
chr1:450989..457087hg19UCSC Ensembl
Innerchr1:451989..456087hg19UCSC Ensembl
Outerchr1:449989..458087hg19UCSC Ensembl
chr1:440852..446950hg18UCSC Ensembl
Innerchr1:441852..445950hg18UCSC Ensembl
Outerchr1:439852..447950hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386099
hg196099
hg186099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3334942
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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