A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995429



Internal ID6731379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621383..14628090hg38UCSC Ensembl
Outerchr19:14732195..14738902hg19UCSC Ensembl
Outerchr19:14593195..14599902hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg386708
hg196708
hg186708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564091
SamplesHuRef
Known GenesEMR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995429
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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