A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3144901



Internal ID10817881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3997031..3997488hg38UCSC Ensembl
Outerchr18:3997031..3997488hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7414468
SamplesHuRef
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3144901
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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