A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866025



Internal ID13318196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35716918..35716938hg38UCSC Ensembl
Innerchr18:35716885..35716971hg38UCSC Ensembl
Outerchr18:35716865..35716991hg38UCSC Ensembl
chr18:33296882..33296902hg19UCSC Ensembl
Innerchr18:33296849..33296935hg19UCSC Ensembl
Outerchr18:33296829..33296955hg19UCSC Ensembl
chr18:31550880..31550900hg18UCSC Ensembl
Innerchr18:31550933..31550847hg18UCSC Ensembl
Outerchr18:31550827..31550953hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343872
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866025
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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