A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744413



Internal ID9978697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:43887864..43888313hg38UCSC Ensembl
Outerchr11:43909414..43909863hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681442, essv6935971, essv6758116, essv6920007, essv6711598, essv6976904, essv6804488, essv6743918, essv6746722, essv6710143, essv6737231, essv6937806, essv6765683, essv6819528, essv6965555, essv6749565, essv6907573, essv6876542, essv6763290, essv6953075, essv6752458, essv6760856, essv6833710, essv6737794, essv6770598, essv6735084, essv6755426, essv6915990, essv6927798, essv6740940, essv6856983, essv6912447, essv6668126
SamplesSSM010, SSM007, SSM027, SSM092, SSM053, SSM006, SSM055, SSM033, SSM061, SSM078, SSM025, SSM016, SSM057, SSM001, SSM050, SSM062, SSM056, SSM017, SSM009, SSM029, SSM003, SSM030, SSM021, SSM002, SSM063, SSM087, SSM019, SSM052, SSM015, SSM049, SSM008, SSM058, SSM059
Known GenesALKBH3
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)esv2744413
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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