A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1454607



Internal ID12271043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125183203..125183493hg38UCSC Ensembl
chr11:125053099..125053389hg19UCSC Ensembl
chr11:124558309..124558599hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4280852
SamplesHuRef
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1454607
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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