A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842021



Internal ID1049049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35402118..35408146hg38UCSC Ensembl
Innerchr18:35402118..35408146hg38UCSC Ensembl
Outerchr18:35401880..35408413hg38UCSC Ensembl
chr18:32982082..32988110hg19UCSC Ensembl
Innerchr18:32982082..32988110hg19UCSC Ensembl
Outerchr18:32981844..32988377hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386029
hg196029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642201
Supporting Variants
SamplesHG00672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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