A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745196



Internal ID9979480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125425227..125425870hg38UCSC Ensembl
Outerchr11:125295123..125295766hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv150e201
Supporting Variantsessv6851078, essv6783514, essv6842377, essv6831257, essv6724439, essv6685030, essv6936060, essv6931770, essv6791796, essv6716728, essv6959165, essv6775643, essv6779403, essv6768449
SamplesSSM045, SSM064, SSM084, SSM021, SSM026, SSM067, SSM086, SSM066, SSM068, SSM081, SSM020, SSM070, SSM034, SSM043
Known GenesPKNOX2
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)esv2745196
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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