A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991625



Internal ID6727589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6236601..6241142hg38UCSC Ensembl
Outerchr19:6236612..6241153hg19UCSC Ensembl
Outerchr19:6187612..6192153hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384542
hg194542
hg184542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565683
SamplesHuRef
Known GenesMLLT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991625
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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