A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15819601



Internal ID5821417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23531787..23533003hg38UCSC Ensembl
Innerchr18:23531837..23532953hg38UCSC Ensembl
Outerchr18:23531735..23533055hg38UCSC Ensembl
chr18:21111751..21112967hg19UCSC Ensembl
Innerchr18:21111801..21112917hg19UCSC Ensembl
Outerchr18:21111699..21113019hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641971
Supporting Variants
SamplesHG01528
Known GenesC18orf8, NPC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15819601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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