A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1595312



Internal ID12758433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17883912..17883912hg38UCSC Ensembl
chr5:17884021..17884021hg19UCSC Ensembl
chr5:17919778..17919778hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4006844
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1595312
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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