A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565318



Internal ID7036700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:217918910..217923940hg38UCSC Ensembl
Outerchr2:218783633..218788663hg19UCSC Ensembl
Outerchr2:218491878..218496908hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385031
hg195031
hg185031
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006594
Supporting Variants
SamplesHuRef
Known GenesTNS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565318
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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