A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842433



Internal ID5844249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36373485..36376675hg38UCSC Ensembl
Innerchr18:36373532..36376629hg38UCSC Ensembl
Outerchr18:36373439..36376722hg38UCSC Ensembl
chr18:33953448..33956638hg19UCSC Ensembl
Innerchr18:33953495..33956592hg19UCSC Ensembl
Outerchr18:33953402..33956685hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg383191
hg193191
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642226
Supporting Variants
SamplesNA18510
Known GenesFHOD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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