A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1368287



Internal ID12531409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76079239..76079327hg38UCSC Ensembl
chr9:78694155..78694243hg19UCSC Ensembl
chr9:77883975..77884063hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3830111
SamplesHuRef
Known GenesPCSK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1368287
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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