A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1484913



Internal ID12301349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:391617..391617hg38UCSC Ensembl
chr5:391732..391732hg19UCSC Ensembl
chr5:444732..444732hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3832692
SamplesHuRef
Known GenesAHRR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1484913
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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