A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994245



Internal ID7063040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6949983..6950727hg38UCSC Ensembl
Outerchr12:7059146..7059890hg19UCSC Ensembl
Outerchr12:6929407..6930151hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382810
hg192810
hg182810
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563911
SamplesHuRef
Known GenesPTPN6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994245
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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