A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565037



Internal ID7036137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50542279..50544507hg38UCSC Ensembl
Outerchr19:51045536..51047764hg19UCSC Ensembl
Outerchr19:55737348..55739576hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382229
hg192229
hg182229
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994565
Supporting Variants
SamplesHuRef
Known GenesLRRC4B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565037
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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