A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1198309



Internal ID12014746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44391027..44391091hg38UCSC Ensembl
chr6:44358764..44358828hg19UCSC Ensembl
chr6:44466742..44466806hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3826513
SamplesHuRef
Known GenesCDC5L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1198309
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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