A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1067040



Internal ID11883479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149198054..149198054hg38UCSC Ensembl
chr5:148577617..148577617hg19UCSC Ensembl
chr5:148557810..148557810hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3637264
SamplesHuRef
Known GenesABLIM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1067040
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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