A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738375



Internal ID10322011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33573298..33574225hg38UCSC Ensembl
Outerchr9:33573296..33574223hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731619, essv6935563, essv6740639, essv6952709, essv6861783, essv6698426, essv6768129, essv6904453, essv6894643, essv6976208, essv6737531, essv6827201, essv6720217, essv6912089, essv6815019, essv6894219, essv6808997, essv6672339, essv6873335, essv6823149, essv6767576, essv6964961
SamplesSSM008, SSM027, SSM075, SSM064, SSM079, SSM038, SSM013, SSM050, SSM088, SSM021, SSM047, SSM029, SSM031, SSM044, SSM015, SSM080, SSM077, SSM091, SSM025, SSM052, SSM098, SSM012
Known Genes
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)esv2738375
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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