A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563923



Internal ID7035023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40645073..40654521hg38UCSC Ensembl
Outerchr19:41150978..41160426hg19UCSC Ensembl
Outerchr19:45842818..45852266hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg389449
hg199449
hg189449
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993784
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563923
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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