A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564845



Internal ID6689541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45172554..45181610hg38UCSC Ensembl
Outerchr19:45675812..45684868hg19UCSC Ensembl
Outerchr19:50367652..50376708hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg389057
hg199057
hg189057
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005203
Supporting Variants
SamplesHuRef
Known GenesBLOC1S3, TRAPPC6A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564845
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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