A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691117



Internal ID15104143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14182653..14185251hg38UCSC Ensembl
Innerchr18:14183653..14184251hg38UCSC Ensembl
Outerchr18:14181653..14186251hg38UCSC Ensembl
chr18:14182652..14185250hg19UCSC Ensembl
Innerchr18:14183652..14184250hg19UCSC Ensembl
Outerchr18:14181652..14186250hg19UCSC Ensembl
chr18:14172652..14175250hg18UCSC Ensembl
Innerchr18:14173652..14174250hg18UCSC Ensembl
Outerchr18:14171652..14176250hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3385199
Supporting Variants
SamplesNA19240
Known GenesANKRD20A5P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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