A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15903250



Internal ID5905066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62194361..62198112hg38UCSC Ensembl
Innerchr18:62194361..62198112hg38UCSC Ensembl
Outerchr18:62194222..62198277hg38UCSC Ensembl
chr18:59861594..59865345hg19UCSC Ensembl
Innerchr18:59861594..59865345hg19UCSC Ensembl
Outerchr18:59861455..59865510hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg383752
hg193752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642747
Supporting Variants
SamplesNA19063
Known GenesKIAA1468
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15903250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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