A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15856909



Internal ID5858725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44892474..44894836hg38UCSC Ensembl
Innerchr18:44892498..44894812hg38UCSC Ensembl
Outerchr18:44892450..44894860hg38UCSC Ensembl
chr18:42472439..42474801hg19UCSC Ensembl
Innerchr18:42472463..42474777hg19UCSC Ensembl
Outerchr18:42472415..42474825hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642401
Supporting Variants
SamplesHG02337
Known GenesSETBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15856909
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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