A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556105



Internal ID18410495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:16676095..16676291hg38UCSC Ensembl
Outerchr19:16676070..16676305hg38UCSC Ensembl
Innerchr19:16786906..16787102hg19UCSC Ensembl
Outerchr19:16786881..16787116hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754852
Samples
Known GenesTMEM38A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556105
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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