A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973784



Internal ID14679045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57161439..57161499hg38UCSC Ensembl
Innerchr18:57161448..57161487hg38UCSC Ensembl
Outerchr18:57161391..57161547hg38UCSC Ensembl
chr18:54828670..54828730hg19UCSC Ensembl
Innerchr18:54828679..54828718hg19UCSC Ensembl
Outerchr18:54828622..54828778hg19UCSC Ensembl
chr18:52979668..52979728hg18UCSC Ensembl
Innerchr18:52979716..52979677hg18UCSC Ensembl
Outerchr18:52979620..52979776hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361974
Supporting Variants
SamplesNA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973784
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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