A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3830111



Internal ID11931760
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1368287
Supporting Variants
SamplesHuRef
Known GenesPCSK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3830111
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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