A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725955



Internal ID9960261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134955029..134955717hg38UCSC Ensembl
Outerchr3:134673871..134674559hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679772, essv6829573, essv6748232, essv6667200, essv6878108, essv6723454, essv6844400, essv6906770, essv6955273, essv6896278, essv6762216, essv6722604, essv6718734, essv6774017, essv6848051, essv6951212, essv6899106, essv6938303, essv6781527, essv6833153, essv6675817, essv6697436, essv6804906, essv6838931, essv6869179, essv6802075, essv6686659, essv6882176, essv6872196, essv6753987, essv6785678, essv6906262, essv6700320, essv6910671, essv6689823, essv6707813, essv6736453, essv6693466, essv6942533, essv6883711, essv6711201, essv6922403
SamplesSSM022, SSM007, SSM082, SSM086, SSM036, SSM091, SSM033, SSM099, SSM042, SSM090, SSM035, SSM025, SSM001, SSM032, SSM039, SSM045, SSM050, SSM041, SSM062, SSM012, SSM093, SSM100, SSM056, SSM085, SSM066, SSM095, SSM030, SSM073, SSM069, SSM002, SSM037, SSM038, SSM023, SSM068, SSM044, SSM074, SSM004, SSM015, SSM014, SSM018, SSM058, SSM081
Known GenesEPHB1
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)esv2725955
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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