A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3834737



Internal ID11927134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49701054..49701054hg38UCSC Ensembl
chr19:50204311..50204311hg19UCSC Ensembl
chr19:54896123..54896123hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1580543
Supporting Variants
SamplesHuRef
Known GenesCPT1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3834737
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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