A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744495



Internal ID9978779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48923100..48923773hg38UCSC Ensembl
Outerchr11:48944652..48945325hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870627, essv6763305, essv6735095, essv6710288, essv6953086, essv6749579, essv6965581, essv6783438, essv6681453, essv6684966, essv6686410, essv6948944, essv6862230
SamplesSSM027, SSM024, SSM088, SSM090, SSM062, SSM033, SSM006, SSM068, SSM005, SSM025, SSM034, SSM049, SSM056
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)esv2744495
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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