A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740893



Internal ID15084684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47175834..47175834hg38UCSC Ensembl
Innerchr18:47175833..47175835hg38UCSC Ensembl
Outerchr18:47175784..47175884hg38UCSC Ensembl
chr18:44702205..44702205hg19UCSC Ensembl
Innerchr18:44702204..44702206hg19UCSC Ensembl
Outerchr18:44702155..44702255hg19UCSC Ensembl
chr18:42956203..42956203hg18UCSC Ensembl
Innerchr18:42956204..42956202hg18UCSC Ensembl
Outerchr18:42956153..42956253hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38416
hg19416
hg18416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416044
Supporting Variants
SamplesNA19240
Known GenesIER3IP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740893
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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