A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744558



Internal ID9978842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58864275..58869082hg38UCSC Ensembl
Outerchr11:58631748..58636555hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384808
hg194808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749582, essv6771944, essv6927823, essv6845861, essv6864775, essv6755446, essv6737409, essv6779330, essv6838511, essv6948957, essv6900548, essv6862241, essv6698673, essv6940201, essv6787642, essv6907784, essv6827592, essv6720572, essv6763308, essv6882232, essv6804643, essv6732007, essv6866984, essv6758140, essv6702320, essv6873576, essv6937996, essv6834775, essv6672959, essv6728221, essv6803402, essv6791740, essv6716670, essv6870637, essv6912471, essv6831193, essv6833954, essv6743933, essv6691493, essv6904795, essv6976938, essv6681459, essv6953096, essv6712880, essv6770797, essv6944795, essv6737810, essv6688190, essv6783451, essv6819551, essv6965592, essv6908744, essv6897569, essv6931708, essv6916015, essv6876558, essv6740959, essv6812131
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM046, SSM011, SSM065, SSM038, SSM039, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM002, SSM023, SSM058, SSM092, SSM090, SSM047, SSM069, SSM029, SSM062, SSM089, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM014, SSM033, SSM085, SSM068, SSM081, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM076, SSM022, SSM010, SSM091, SSM070, SSM025, SSM099, SSM043, SSM052, SSM056
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)esv2744558
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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