A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1338683



Internal ID12155119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50439622..50439696hg38UCSC Ensembl
chr19:50942879..50942953hg19UCSC Ensembl
chr19:55634691..55634765hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3995149
SamplesHuRef
Known GenesMYBPC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1338683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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