A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15883449



Internal ID5398447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55018479..55021441hg38UCSC Ensembl
Innerchr18:55018492..55021428hg38UCSC Ensembl
Outerchr18:55018466..55021454hg38UCSC Ensembl
chr18:52685710..52688672hg19UCSC Ensembl
Innerchr18:52685723..52688659hg19UCSC Ensembl
Outerchr18:52685697..52688685hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642591
Supporting Variants
SamplesNA18943
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15883449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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