A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555852



Internal ID18756928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1950320..1951799hg38UCSC Ensembl
Outerchr19:1950233..1952054hg38UCSC Ensembl
Innerchr19:1950319..1951798hg19UCSC Ensembl
Outerchr19:1950232..1952053hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754599
Samples
Known GenesCSNK1G2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555852
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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