A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1239393



Internal ID12055830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178758725..178758725hg38UCSC Ensembl
chr3:178476513..178476513hg19UCSC Ensembl
chr3:179959207..179959207hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4271981
SamplesHuRef
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1239393
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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