A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003519



Internal ID6715651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150165041..150169071hg38UCSC Ensembl
Outerchr6:150486177..150490207hg19UCSC Ensembl
Outerchr6:150527870..150531900hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382318
hg192318
hg182318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565126
SamplesHuRef
Known GenesPPP1R14C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003519
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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