A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4107315



Internal ID11654560
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1553523
Supporting Variants
SamplesHuRef
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4107315
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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