A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1442016



Internal ID12605138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49746446..49746446hg38UCSC Ensembl
chr3:49783879..49783879hg19UCSC Ensembl
chr3:49758883..49758883hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38586
hg19586
hg18586
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4139231
SamplesHuRef
Known GenesIP6K1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1442016
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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