A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735129



Internal ID10318765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128107431..128108611hg38UCSC Ensembl
Outerchr7:127747483..127748663hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930816, essv6676915, essv6802827, essv6751866, essv6861299, essv6743401, essv6902641, essv6849687, essv6919210, essv6818640, essv6866016, essv6737222, essv6948158, essv6943826, essv6734592, essv6957593, essv6975404, essv6939375, essv6671650, essv6740286, essv6826757, essv6760296, essv6705832, essv6855747, essv6822766, essv6964283, essv6893853, essv6890515, essv6927119
SamplesSSM027, SSM024, SSM079, SSM087, SSM097, SSM073, SSM050, SSM088, SSM002, SSM057, SSM023, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM086, SSM006, SSM020, SSM078, SSM053, SSM080, SSM022, SSM052, SSM098, SSM049
Known Genes
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)esv2735129
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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