A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565250



Internal ID7036632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179196464..179216895hg38UCSC Ensembl
Outerchr2:180061191..180081622hg19UCSC Ensembl
Outerchr2:179769436..179789867hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3820432
hg1920432
hg1820432
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989936
Supporting Variants
SamplesHuRef
Known GenesSESTD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565250
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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