A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1626049



Internal ID12442483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79687093..79687413hg38UCSC Ensembl
chr18:77447093..77447413hg19UCSC Ensembl
chr18:75548081..75548401hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4216369
SamplesHuRef
Known GenesCTDP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1626049
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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