A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1490875



Internal ID12307311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33633243..33633243hg38UCSC Ensembl
chr5:33633348..33633348hg19UCSC Ensembl
chr5:33669105..33669105hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385232
hg195232
hg185232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3796427
SamplesHuRef
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1490875
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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