A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743881



Internal ID9978165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:980047..980477hg38UCSC Ensembl
Outerchr11:980047..980477hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870573, essv6685943, essv6716596, essv6768346, essv6771873, essv6891091, essv6976790, essv6779262, essv6912399, essv6800004, essv6838438, essv6806219, essv6709327, essv6904725, essv6809215, essv6897501, essv6672840, essv6915954, essv6783360, essv6743877, essv6760809, essv6803339, essv6834708, essv6720497, essv6863953, essv6969640, essv6698616, essv6804142, essv6935915, essv6882170, essv6795831, essv6876506, essv6749529, essv6884947, essv6815291, essv6684897, essv6736887, essv6908659, essv6706030, essv6907263, essv6894480, essv6770054, essv6887852, essv6668096, essv6827496, essv6900482, essv6691430, essv6931625, essv6924137, essv6712818, essv6842257, essv6688119, essv6702236, essv6775535
SamplesSSM065, SSM007, SSM092, SSM013, SSM053, SSM082, SSM036, SSM084, SSM061, SSM099, SSM042, SSM040, SSM043, SSM090, SSM064, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM039, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM005, SSM100, SSM056, SSM009, SSM011, SSM066, SSM029, SSM095, SSM030, SSM073, SSM021, SSM002, SSM034, SSM038, SSM096, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM014, SSM008, SSM098, SSM018, SSM080
Known GenesAP2A2
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)esv2743881
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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