A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1330141



Internal ID12146577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3326045..3326104hg38UCSC Ensembl
chr1:3242609..3242668hg19UCSC Ensembl
chr1:3232469..3232528hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3645168
SamplesHuRef
Known GenesPRDM16
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1330141
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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