A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555426



Internal ID18409816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:55245763..55245886hg38UCSC Ensembl
Outerchr18:55245760..55245894hg38UCSC Ensembl
Innerchr18:52912994..52913117hg19UCSC Ensembl
Outerchr18:52912991..52913125hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754173
Samples
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555426
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer