A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1562329



Internal ID12725450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132556756..132556756hg38UCSC Ensembl
chr12:133133342..133133342hg19UCSC Ensembl
chr12:131643415..131643415hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4332661
SamplesHuRef
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1562329
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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