A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15909271



Internal ID6137784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:64932129..65002506hg38UCSC Ensembl
Innerchr18:64932129..65002506hg38UCSC Ensembl
Outerchr18:64931629..65003006hg38UCSC Ensembl
chr18:62599365..62669742hg19UCSC Ensembl
Innerchr18:62599365..62669742hg19UCSC Ensembl
Outerchr18:62598865..62670242hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3870378
hg1970378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642818
Supporting Variants
SamplesNA19670
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15909271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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