A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691192



Internal ID15061495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35886391..35887589hg38UCSC Ensembl
Innerchr18:35886589..35887391hg38UCSC Ensembl
Outerchr18:35885391..35888589hg38UCSC Ensembl
chr18:33466354..33467552hg19UCSC Ensembl
Innerchr18:33466552..33467354hg19UCSC Ensembl
Outerchr18:33465354..33468552hg19UCSC Ensembl
chr18:31720352..31721550hg18UCSC Ensembl
Innerchr18:31721352..31720550hg18UCSC Ensembl
Outerchr18:31719352..31722550hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378960
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691192
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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