A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716004



Internal ID10299640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47157388..47158166hg38UCSC Ensembl
Outerchr17:45234754..45235532hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv422e201
Supporting Variantsessv6750132, essv6738371, essv6692187, essv6691787, essv6776359
SamplesSSM036, SSM050, SSM066, SSM005, SSM056
Known GenesCDC27
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2716004
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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