A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564104



Internal ID7035204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75889250..75897782hg38UCSC Ensembl
Outerchr2:76116376..76124908hg19UCSC Ensembl
Outerchr2:75969884..75978416hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg388533
hg198533
hg188533
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991333
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564104
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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