A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007420



Internal ID7072514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81411536..81433376hg38UCSC Ensembl
Outerchr17:79385336..79400402hg19UCSC Ensembl
Outerchr17:76999931..77014997hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3811343
hg1911343
hg1811343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564196
SamplesHuRef
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007420
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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