A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9675814



Internal ID14359653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423617..31423636hg38UCSC Ensembl
Innerchr18:31423613..31423640hg38UCSC Ensembl
Outerchr18:31423594..31423659hg38UCSC Ensembl
chr18:29003580..29003599hg19UCSC Ensembl
Innerchr18:29003576..29003603hg19UCSC Ensembl
Outerchr18:29003557..29003622hg19UCSC Ensembl
chr18:27257578..27257597hg18UCSC Ensembl
Innerchr18:27257601..27257574hg18UCSC Ensembl
Outerchr18:27257555..27257620hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374183
Supporting Variants
SamplesNA18970
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9675814
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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