A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1514742



Internal ID12677864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105324173..105324223hg38UCSC Ensembl
chr12:105717951..105718001hg19UCSC Ensembl
chr12:104242081..104242131hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4058811
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1514742
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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