A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642293



Internal ID7029063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40142212..40147507hg38UCSC Ensembl
Innerchr18:40142217..40147502hg38UCSC Ensembl
Outerchr18:40142207..40147512hg38UCSC Ensembl
chr18:37722176..37727471hg19UCSC Ensembl
Innerchr18:37722181..37727466hg19UCSC Ensembl
Outerchr18:37722171..37727476hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385296
hg195296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15846878, essv15846876, essv15846877
SamplesHG03027, HG02445, HG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642293
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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