A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992348



Internal ID7062074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29896811..29902447hg38UCSC Ensembl
Outerchr19:30387718..30393354hg19UCSC Ensembl
Outerchr19:35079558..35085194hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385637
hg195637
hg185637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564019
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992348
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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