A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15908934



Internal ID2729098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:64713567..64730466hg38UCSC Ensembl
Innerchr18:64713567..64730466hg38UCSC Ensembl
Outerchr18:64713067..64730966hg38UCSC Ensembl
chr18:62380802..62397701hg19UCSC Ensembl
Innerchr18:62380802..62397701hg19UCSC Ensembl
Outerchr18:62380302..62398201hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3816900
hg1916900
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642809
Supporting Variants
SamplesHG02399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15908934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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