A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15854663



Internal ID5551032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41430279..41432236hg38UCSC Ensembl
Innerchr18:41430289..41432227hg38UCSC Ensembl
Outerchr18:41430270..41432246hg38UCSC Ensembl
chr18:39010243..39012200hg19UCSC Ensembl
Innerchr18:39010253..39012191hg19UCSC Ensembl
Outerchr18:39010234..39012210hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381958
hg191958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642327
Supporting Variants
SamplesNA19006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15854663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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