A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15802992



Internal ID6405271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10135623..10145255hg38UCSC Ensembl
Innerchr18:10135623..10145255hg38UCSC Ensembl
Outerchr18:10135123..10145755hg38UCSC Ensembl
chr18:10135620..10145252hg19UCSC Ensembl
Innerchr18:10135620..10145252hg19UCSC Ensembl
Outerchr18:10135120..10145752hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg389633
hg199633
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641762
Supporting Variants
SamplesNA20355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15802992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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