A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745270



Internal ID9979554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131672708..131672929hg38UCSC Ensembl
Outerchr11:131542602..131542823hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927876, essv6716735, essv6724445, essv6920098, essv6851088, essv6768452, essv6673078, essv6949033, essv6712934, essv6691545, essv6898722, essv6685034, essv6959176, essv6677759, essv6908807, essv6940275, essv6787703
SamplesSSM022, SSM086, SSM036, SSM042, SSM043, SSM064, SSM031, SSM032, SSM024, SSM045, SSM012, SSM017, SSM069, SSM034, SSM019, SSM026, SSM014
Known GenesNTM
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)esv2745270
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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