A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1314250



Internal ID12130686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45330036..45330036hg38UCSC Ensembl
chr1:45795708..45795708hg19UCSC Ensembl
chr1:45568295..45568295hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4355410
SamplesHuRef
Known GenesMUTYH
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1314250
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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