A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747870



Internal ID10328840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99024960..99026887hg38UCSC Ensembl
Outerchr13:99677214..99679141hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381928
hg191928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755731, essv6761111, essv6738046, essv6936361, essv6775882, essv6807565, essv6901143, essv6752711, essv6758360, essv6851523, essv6977600, essv6744165, essv6741258, essv6765880, essv6912803, essv6774141, essv6716997, essv6819950, essv6836287, essv6698904, essv6749829, essv6870871
SamplesSSM059, SSM008, SSM038, SSM009, SSM050, SSM057, SSM058, SSM090, SSM021, SSM061, SSM029, SSM086, SSM066, SSM015, SSM078, SSM053, SSM010, SSM043, SSM052, SSM056, SSM063, SSM012
Known GenesDOCK9
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)esv2747870
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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