A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745269



Internal ID9979553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131672451..131673173hg38UCSC Ensembl
Outerchr11:131542345..131543067hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38723
hg19723
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, essv6936066, essv6949033, essv6712934, essv6691545, essv6898722, essv6685034, essv6959176, essv6677759, essv6908807, essv6940275, essv6787703
SamplesSSM022, SSM086, SSM036, SSM042, SSM043, SSM064, SSM031, SSM032, SSM024, SSM045, SSM012, SSM017, SSM069, SSM021, 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)esv2745269
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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