A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565234



Internal ID7036616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68193830..68206223hg38UCSC Ensembl
Outerchr4:69059548..69071941hg19UCSC Ensembl
Outerchr4:68742143..68754536hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3812394
hg1912394
hg1812394
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996547
Supporting Variants
SamplesHuRef
Known GenesFTLP10, TMPRSS11BNL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565234
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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