A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857846



Internal ID5859662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46500203..46505343hg38UCSC Ensembl
Innerchr18:46500227..46505320hg38UCSC Ensembl
Outerchr18:46500180..46505367hg38UCSC Ensembl
chr18:44080166..44085306hg19UCSC Ensembl
Innerchr18:44080190..44085283hg19UCSC Ensembl
Outerchr18:44080143..44085330hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385141
hg195141
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642435
Supporting Variants
SamplesHG02058
Known GenesLOXHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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