A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745000



Internal ID10325970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102731326..102731434hg38UCSC Ensembl
Outerchr11:102602057..102602165hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977011, essv6673036, essv6959135
SamplesSSM029, SSM026, SSM031
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)esv2745000
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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