A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555541



Internal ID18756617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66543264..66547521hg38UCSC Ensembl
Outerchr18:66542170..66548763hg38UCSC Ensembl
Innerchr18:64210501..64214758hg19UCSC Ensembl
Outerchr18:64209407..64216000hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg386594
hg196594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754288
Samples
Known GenesCDH19
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555541
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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