A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1422494



Internal ID12238930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33849328..33849328hg38UCSC Ensembl
chr5:33849433..33849433hg19UCSC Ensembl
chr5:33885190..33885190hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4272903
SamplesHuRef
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1422494
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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