A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744401



Internal ID9978685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:41800675..41801099hg38UCSC Ensembl
Outerchr11:41822225..41822649hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959046, essv6823491, essv6812108, essv6970643, essv6862210, essv6712853, essv6900525, essv6965551, essv6976901, essv6856980, essv6731983, essv6815331, essv6842295, essv6908710, essv6866953, essv6891137, essv6897542, essv6691467, essv6698653, essv6672921, essv6819524, essv6771925, essv6940175, essv6787615, essv6716645, essv6709368, essv6791711, essv6845838, essv6804476, essv6834750, essv6684950, essv6931678, essv6677664, essv6831172, essv6695401, essv6944754, essv6948922, essv6907551, essv6884973, essv6897965, essv6879372, essv6870606, essv6864509, essv6882212, essv6686265, essv6688165, essv6827561, essv6702294, essv6873550
SamplesSSM100, SSM036, SSM027, SSM024, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM093, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM084, SSM090, SSM047, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM085, SSM081, SSM082, SSM020, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM034, SSM099, SSM043, SSM012
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)esv2744401
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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