A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008241



Internal ID6720351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112150996..112167901hg38UCSC Ensembl
Outerchr3:111869843..111886748hg19UCSC Ensembl
Outerchr3:113352533..113369438hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3814324
hg1914324
hg1814324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563639
SamplesHuRef
Known GenesSLC9C1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008241
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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