A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990849



Internal ID6726815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31848842..31851212hg38UCSC Ensembl
Outerchr18:29428805..29431175hg19UCSC Ensembl
Outerchr18:27682803..27685173hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382371
hg192371
hg182371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563692
SamplesHuRef
Known GenesTRAPPC8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990849
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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