A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15856934



Internal ID5858750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45224520..45229969hg38UCSC Ensembl
Innerchr18:45224520..45229969hg38UCSC Ensembl
Outerchr18:45224375..45230086hg38UCSC Ensembl
chr18:42804485..42809934hg19UCSC Ensembl
Innerchr18:42804485..42809934hg19UCSC Ensembl
Outerchr18:42804340..42810051hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385450
hg195450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642406
Supporting Variants
SamplesHG03485
Known GenesSLC14A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15856934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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