A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842434



Internal ID5844250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36399858..36401641hg38UCSC Ensembl
Innerchr18:36399858..36401641hg38UCSC Ensembl
Outerchr18:36399606..36401888hg38UCSC Ensembl
chr18:33979821..33981604hg19UCSC Ensembl
Innerchr18:33979821..33981604hg19UCSC Ensembl
Outerchr18:33979569..33981851hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381784
hg191784
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642227
Supporting Variants
SamplesHG00651
Known GenesFHOD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842434
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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