A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4309285



Internal ID11245137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50226197..50226494hg38UCSC Ensembl
chr19:50729454..50729751hg19UCSC Ensembl
chr19:55421266..55421563hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1752526
Supporting Variants
SamplesHuRef
Known GenesMYH14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4309285
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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