A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994529



Internal ID6730482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41946199..41952365hg38UCSC Ensembl
Outerchr17:40102453..40104384hg19UCSC Ensembl
Outerchr17:37355979..37357910hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383972
hg193972
hg183972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564161
SamplesHuRef
Known GenesTTC25
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994529
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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