A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008167



Internal ID6720277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:46777837..46789718hg38UCSC Ensembl
Outerchr19:47281094..47292975hg19UCSC Ensembl
Outerchr19:51972934..51984815hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3811882
hg1911882
hg1811882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563496
SamplesHuRef
Known GenesSLC1A5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008167
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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