A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001261



Internal ID6713400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:10176180..10183265hg38UCSC Ensembl
Outerchr19:10286856..10293941hg19UCSC Ensembl
Outerchr19:10147856..10154941hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387086
hg197086
hg187086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565233
SamplesHuRef
Known GenesDNMT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001261
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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