A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739008



Internal ID10322644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121879146..121880580hg38UCSC Ensembl
Outerchr9:124641425..124642859hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695931, essv6958513, essv6672468, essv6755212, essv6861868, essv6819185, essv6856531, essv6708542, essv6768188, essv6976330, essv6965083, essv6740710, essv6850515, essv6765524, essv6737590, essv6757944, essv6760667
SamplesSSM059, SSM027, SSM064, SSM087, SSM050, SSM088, SSM058, SSM061, SSM029, SSM026, SSM031, SSM001, SSM086, SSM006, SSM078, SSM052, SSM063
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)esv2739008
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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