A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992591



Internal ID6728553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:62545381..62553952hg38UCSC Ensembl
Outerchr3:62531056..62539627hg19UCSC Ensembl
Outerchr3:62506096..62514667hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg388572
hg198572
hg188572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563849
SamplesHuRef
Known GenesCADPS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992591
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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