A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4280852



Internal ID11216704
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1454607
Supporting Variants
SamplesHuRef
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4280852
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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