A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745215



Internal ID9979499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126375566..126396937hg38UCSC Ensembl
Outerchr11:126245461..126266832hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3821372
hg1921372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724441, essv6809325, essv6879438, essv6702392, essv6743982, essv6867074, essv6834443, essv6977057, essv6924272, essv6927872, essv6916065, essv6823574, essv6800151, essv6908251, essv6949030, essv6763348, essv6791797, essv6749629, essv6737809, essv6695482, essv6779404, essv6803457, essv6936062, essv6732067, essv6876613, essv6865175
SamplesSSM024, SSM075, SSM045, SSM011, SSM079, SSM039, SSM073, SSM093, SSM002, SSM092, SSM021, SSM047, SSM018, SSM029, SSM062, SSM089, SSM019, SSM067, SSM072, SSM007, SSM016, SSM053, SSM037, SSM010, SSM070, SSM056
Known GenesST3GAL4
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)esv2745215
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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