A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745312



Internal ID9979596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134069325..134069947hg38UCSC Ensembl
Outerchr11:133939220..133939842hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702398, essv6831266, essv6706168, essv6970746, essv6977080, essv6772003, essv6920102, essv6691547, essv6728280, essv6779407, essv6695492, essv6712938
SamplesSSM036, SSM046, SSM065, SSM039, SSM042, SSM028, SSM029, SSM017, SSM067, SSM081, SSM040, SSM037
Known GenesJAM3
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)esv2745312
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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