A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744293



Internal ID10325263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:27635527..27636263hg38UCSC Ensembl
Outerchr11:27657074..27657810hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891124, essv6812098, essv6688152, essv6702278, essv6800039, essv6716634, essv6709358, essv6698642, essv6724347, essv6823477, essv6845829, essv6882202, essv6856960, essv6819508, essv6887880, essv6740927, essv6827544, essv6838470, essv6672899, essv6900515, essv6720537, essv6897533, essv6953063, essv6937684, essv6791694, essv6831152, essv6684937, essv6864353
SamplesSSM100, SSM083, SSM045, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM041, SSM096, SSM035, SSM094, SSM003, SSM031, SSM044, SSM085, SSM081, SSM072, SSM078, SSM080, SSM076, SSM070, SSM025, SSM034, SSM099, SSM043, SSM052
Known GenesBDNF-AS
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)esv2744293
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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