A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739009



Internal ID10322645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121879550..121880040hg38UCSC Ensembl
Outerchr9:124641829..124642319hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958513, essv6672468, essv6861868, essv6819185, essv6856531, essv6768188, essv6965083, essv6850515
SamplesSSM027, SSM064, SSM087, SSM088, SSM026, SSM031, SSM086, SSM078
Known GenesTTLL11
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)esv2739009
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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