A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997840



Internal ID6733780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29991169..30003917hg38UCSC Ensembl
Outerchr16:30002490..30015238hg19UCSC Ensembl
Outerchr16:29909991..29922739hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812749
hg1912749
hg1812749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564790
SamplesHuRef
Known GenesHIRIP3, INO80E, TAOK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997840
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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