A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745037

Internal ID9979321
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106915507..106918834hg38UCSC Ensembl
Outerchr11:106786233..106789560hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735127, essv6746785, essv6924257, essv6908152, essv6706147, essv6912518, essv6857088, essv6695469, essv6953149, essv6771979, essv6949011, essv6724427, essv6732056, essv6970726, essv6677743, essv6685017, essv6904848, essv6900585, essv6716153, essv6894586, essv6916056, essv6771231, essv6931758, essv6755480, essv6815406, essv6842360, essv6752513, essv6720616, essv6760916, essv6743966, essv6891214, essv6834819, essv6819614, essv6867048, essv6809313, essv6885032, essv6908787, essv6831246, essv6800134, essv6944853, essv6688225, essv6702378, essv6806318, essv6876597, essv6737710, essv6938396, essv6673048, essv6845902
SamplesSSM065, SSM007, SSM092, SSM013, SSM053, SSM082, SSM055, SSM084, SSM061, SSM040, SSM078, SSM089, SSM031, SSM035, SSM025, SSM072, SSM020, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM097, SSM077, SSM100, SSM085, SSM028, SSM003, SSM095, SSM047, SSM002, SSM037, SSM034, SSM087, SSM023, SSM044, SSM074, SSM075, SSM015, SSM014, SSM049, SSM008, SSM098, SSM018, SSM058, SSM081
Known GenesGUCY1A2
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745037
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0

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