A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744411



Internal ID10325381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:43860357..43861833hg38UCSC Ensembl
Outerchr11:43881907..43883383hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381477
hg191477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866957, essv6907562, essv6873551, essv6838482, essv6937795
SamplesSSM083, SSM002, SSM089, SSM003, SSM091
Known Genes
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)esv2744411
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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