A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999375



Internal ID6735300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18724789..18724791hg38UCSC Ensembl
Outerchr19:18835599..18835601hg19UCSC Ensembl
Outerchr19:18696599..18696601hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382777
hg192777
hg182777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565589
SamplesHuRef
Known GenesCRTC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999375
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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