A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842432



Internal ID5844248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36338144..36340537hg38UCSC Ensembl
Innerchr18:36338144..36340537hg38UCSC Ensembl
Outerchr18:36337987..36340722hg38UCSC Ensembl
chr18:33918107..33920500hg19UCSC Ensembl
Innerchr18:33918107..33920500hg19UCSC Ensembl
Outerchr18:33917950..33920685hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382394
hg192394
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642225
Supporting Variants
SamplesHG01880
Known GenesFHOD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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