A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991181



Internal ID7061725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36789475..36801059hg38UCSC Ensembl
Outerchr6:36757252..36768835hg19UCSC Ensembl
Outerchr6:36865230..36876813hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3811585
hg1911584
hg1811584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564154
SamplesHuRef
Known GenesCPNE5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991181
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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