A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1078210



Internal ID11894649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180531134..180531228hg38UCSC Ensembl
chr5:179958134..179958228hg19UCSC Ensembl
chr5:179890740..179890834hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3739672
SamplesHuRef
Known GenesCNOT6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1078210
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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