A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934061



Internal ID6569172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74209575..74216282hg38UCSC Ensembl
Innerchr18:74209575..74216282hg38UCSC Ensembl
Outerchr18:74209437..74216426hg38UCSC Ensembl
chr18:71876810..71883517hg19UCSC Ensembl
Innerchr18:71876810..71883517hg19UCSC Ensembl
Outerchr18:71876672..71883661hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg386708
hg196708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643109
Supporting Variants
SamplesNA20759
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934061
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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