A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4120299



Internal ID11402838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50906721..50906788hg38UCSC Ensembl
chr19:51409977..51410044hg19UCSC Ensembl
chr19:56101789..56101856hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1633192
Supporting Variants
SamplesHuRef
Known GenesKLK4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4120299
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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