A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15856447



Internal ID4012250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44183967..44196990hg38UCSC Ensembl
Innerchr18:44183967..44196990hg38UCSC Ensembl
Outerchr18:44183712..44197237hg38UCSC Ensembl
chr18:41763932..41776955hg19UCSC Ensembl
Innerchr18:41763932..41776955hg19UCSC Ensembl
Outerchr18:41763677..41777202hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3813024
hg1913024
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642388
Supporting Variants
SamplesHG03667
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15856447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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