A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735271



Internal ID9969601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142747357..142758232hg38UCSC Ensembl
Outerchr7:142455208..142466079hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810876
hg1910872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948201, essv6845263, essv6826794, essv6930842, essv6719800, essv6845262, essv6915392, essv6811622, essv6826792, essv6771181, essv6731237, essv6927154, essv6762866, essv6952291, essv6891032, essv6723606, essv6876024, essv6915393, essv6694605, essv6964330, essv6931951, essv6754846, essv6873078, essv6762867, essv6849728, essv6873074, essv6826790, essv6719801, essv6826793, essv6939408, essv6919257, essv6907973, essv6749017, essv6771179, essv6907972, essv6845268, essv6666710, essv6964395, essv6786796, essv6799260, essv6948204, essv6778585, essv6935125, essv6731531, essv6855786, essv6705384, essv6952290, essv6911692, essv6802856, essv6964373, essv6778583
SamplesSSM027, SSM024, SSM045, SSM065, SSM087, SSM073, SSM058, SSM092, SSM021, SSM047, SSM069, SSM062, SSM017, SSM019, SSM003, SSM067, SSM044, SSM001, SSM014, SSM086, SSM085, SSM040, SSM072, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM076, SSM022, SSM091, SSM025, SSM004, SSM056, SSM012
Known GenesPRSS1
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)esv2735271
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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