A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990394



Internal ID7061520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23513794..23524064hg38UCSC Ensembl
Outerchr16:23525115..23535385hg19UCSC Ensembl
Outerchr16:23432616..23442886hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3810271
hg1910271
hg1810271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563534
SamplesHuRef
Known GenesEARS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990394
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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