A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1553523



Internal ID12716645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132499299..132499383hg38UCSC Ensembl
chr12:133075885..133075969hg19UCSC Ensembl
chr12:131585958..131586042hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4107315
SamplesHuRef
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1553523
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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