A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15933307



Internal ID1616961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:72323900..72381459hg38UCSC Ensembl
Innerchr18:72323920..72381440hg38UCSC Ensembl
Outerchr18:72323881..72381479hg38UCSC Ensembl
chr18:69991135..70048694hg19UCSC Ensembl
Innerchr18:69991155..70048675hg19UCSC Ensembl
Outerchr18:69991116..70048714hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3857560
hg1957560
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643054
Supporting Variants
SamplesHG01498
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15933307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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