A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995451



Internal ID6731401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82235811..82243138hg38UCSC Ensembl
Outerchr17:80193687..80201014hg19UCSC Ensembl
Outerchr17:77786976..77794303hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg387328
hg197328
hg187328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564569
SamplesHuRef
Known GenesCSNK1D, MIR6787, SLC16A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995451
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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