A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866044



Internal ID13318210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60332872..60332886hg38UCSC Ensembl
Innerchr18:60332847..60332911hg38UCSC Ensembl
Outerchr18:60332833..60332925hg38UCSC Ensembl
chr18:58000105..58000119hg19UCSC Ensembl
Innerchr18:58000080..58000144hg19UCSC Ensembl
Outerchr18:58000066..58000158hg19UCSC Ensembl
chr18:56151085..56151099hg18UCSC Ensembl
Innerchr18:56151124..56151060hg18UCSC Ensembl
Outerchr18:56151046..56151138hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327562
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866044
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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