A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563639



Internal ID6688681
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008241
Supporting Variants
SamplesHuRef
Known GenesSLC9C1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563639
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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