A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745037



Internal ID9979321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106915507..106918834hg38UCSC Ensembl
Outerchr11:106786233..106789560hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383328
hg193328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953149, essv6904848, essv6771979, essv6695469, essv6916056, essv6857088, essv6845902, essv6900585, essv6931758, essv6885032, essv6677743, essv6834819, essv6867048, essv6908152, essv6752513, essv6908787, essv6702378, essv6673048, essv6938396, essv6800134, essv6809313, essv6760916, essv6912518, essv6894586, essv6743966, essv6815406, essv6876597, essv6706147, essv6755480, essv6831246, essv6737710, essv6924257, essv6732056, essv6944853, essv6970726, essv6806318, essv6891214, essv6724427, essv6720616, essv6685017, essv6735127, essv6688225, essv6746785, essv6716153, essv6842360, essv6819614, essv6949011, essv6771231
SamplesSSM100, SSM008, SSM024, SSM075, SSM045, SSM065, SSM087, SSM097, SSM039, SSM013, SSM074, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM047, SSM018, SSM061, SSM089, SSM035, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM077, SSM055, SSM095, SSM025, SSM034, SSM098, SSM049
Known GenesGUCY1A2
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)esv2745037
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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