A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385923



Internal ID15232893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61568086..61568105hg38UCSC Ensembl
Innerchr18:61568088..61568103hg38UCSC Ensembl
Outerchr18:61568084..61568107hg38UCSC Ensembl
chr18:59235319..59235338hg19UCSC Ensembl
Innerchr18:59235321..59235336hg19UCSC Ensembl
Outerchr18:59235317..59235340hg19UCSC Ensembl
chr18:57386299..57386318hg18UCSC Ensembl
Innerchr18:57386301..57386316hg18UCSC Ensembl
Outerchr18:57386297..57386320hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866048
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385923
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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