A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738967



Internal ID10322603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:115095398..115095684hg38UCSC Ensembl
Outerchr9:117857677..117857963hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895332, essv6897340, essv6944434, essv6965077, essv6775312, essv6887682, essv6862409, essv6672459, essv6845626, essv6923876, essv6970312, essv6819181, essv6905719, essv6861863, essv6698474, essv6958504
SamplesSSM027, SSM011, SSM038, SSM088, SSM002, SSM023, SSM028, SSM018, SSM096, SSM026, SSM031, SSM066, SSM085, SSM078, SSM099, SSM012
Known GenesTNC
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)esv2738967
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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