A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1300070



Internal ID12116506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179174954..179175022hg38UCSC Ensembl
chr5:178601955..178602023hg19UCSC Ensembl
chr5:178534561..178534629hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4328432
SamplesHuRef
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1300070
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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