A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555071



Internal ID18756147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12851201..12851507hg38UCSC Ensembl
Outerchr18:12851137..12851573hg38UCSC Ensembl
Innerchr18:12851200..12851506hg19UCSC Ensembl
Outerchr18:12851136..12851572hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753818
Samples
Known GenesPTPN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555071
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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