A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744937



Internal ID10325907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:95436184..95442301hg38UCSC Ensembl
Outerchr11:95169348..95175465hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg386118
hg196118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724418, essv6728249, essv6904835, essv6940245, essv6916049, essv6970715, essv6709421, essv6862278, essv6787673, essv6834266, essv6806306, essv6771975, essv6948999, essv6924241, essv6931745
SamplesSSM024, SSM045, SSM046, SSM065, SSM013, SSM074, SSM088, SSM041, SSM028, SSM018, SSM069, SSM020, SSM016, SSM022, SSM010
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)esv2744937
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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