A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563845



Internal ID6688228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45742165..45761112hg38UCSC Ensembl
Outerchr19:46245423..46264370hg19UCSC Ensembl
Outerchr19:50937263..50956210hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3818948
hg1918948
hg1818948
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987735
Supporting Variants
SamplesHuRef
Known GenesLOC388553
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563845
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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