A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15836674



Internal ID5838490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423275..31424215hg38UCSC Ensembl
Innerchr18:31423275..31424215hg38UCSC Ensembl
Outerchr18:31422817..31424505hg38UCSC Ensembl
chr18:29003238..29004178hg19UCSC Ensembl
Innerchr18:29003238..29004178hg19UCSC Ensembl
Outerchr18:29002780..29004468hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642126
Supporting Variants
SamplesHG03279
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15836674
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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