A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565497



Internal ID6690193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33689329..33698778hg38UCSC Ensembl
Outerchr5:33689434..33698883hg19UCSC Ensembl
Outerchr5:33725191..33734640hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg389450
hg199450
hg189450
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989506
Supporting Variants
SamplesHuRef
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565497
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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