A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564150



Internal ID6688533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49114250..49117866hg38UCSC Ensembl
Outerchr19:49617507..49621123hg19UCSC Ensembl
Outerchr19:54309319..54312935hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383617
hg193617
hg183617
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011024
Supporting Variants
SamplesHuRef
Known GenesLIN7B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564150
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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