A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1036042



Internal ID12199167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16311087..16311087hg38UCSC Ensembl
chr1:16637582..16637582hg19UCSC Ensembl
chr1:16510169..16510169hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3767129
SamplesHuRef
Known GenesFBXO42
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1036042
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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