A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2743881

Internal ID9978165
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:980047..980477hg38UCSC Ensembl
Outerchr11:980047..980477hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2743881
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0

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