A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866058



Internal ID13318219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76055931..76055950hg38UCSC Ensembl
Innerchr18:76055899..76055982hg38UCSC Ensembl
Outerchr18:76055880..76056001hg38UCSC Ensembl
chr18:73767886..73767905hg19UCSC Ensembl
Innerchr18:73767854..73767937hg19UCSC Ensembl
Outerchr18:73767835..73767956hg19UCSC Ensembl
chr18:71896874..71896893hg18UCSC Ensembl
Innerchr18:71896925..71896842hg18UCSC Ensembl
Outerchr18:71896823..71896944hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381769
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866058
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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