A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973434



Internal ID14630826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47115513..47115547hg38UCSC Ensembl
Innerchr18:47115524..47115534hg38UCSC Ensembl
Outerchr18:47115490..47115570hg38UCSC Ensembl
chr18:44641884..44641918hg19UCSC Ensembl
Innerchr18:44641895..44641905hg19UCSC Ensembl
Outerchr18:44641861..44641941hg19UCSC Ensembl
chr18:42895882..42895916hg18UCSC Ensembl
Innerchr18:42895903..42895893hg18UCSC Ensembl
Outerchr18:42895859..42895939hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419585
Supporting Variants
SamplesNA18960
Known GenesHDHD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973434
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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