A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744114



Internal ID9978398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11853924..11855027hg38UCSC Ensembl
Outerchr11:11875471..11876574hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381104
hg191104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681420, essv6763278, essv6897710, essv6856928, essv6876523, essv6919988, essv6735069, essv6940147, essv6935942, essv6907429, essv6937540, essv6770309
SamplesSSM008, SSM087, SSM002, SSM092, SSM021, SSM062, SSM017, SSM003, SSM033, SSM022, SSM049, SSM012
Known GenesUSP47
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)esv2744114
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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