A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734145



Internal ID10317781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25600996..25602575hg38UCSC Ensembl
Outerchr7:25640616..25642195hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1079e201
Supporting Variantsessv6671455, essv6762769, essv6680605, essv6818488, essv6855559, essv6964104, essv6762831, essv6861126, essv6865842, essv6865844, essv6757549, essv6975194, essv6934995, essv6740196, essv6671453, essv6964105, essv6754726, essv6861127, essv6765159, essv6968706, essv6705065, essv6743329, essv6849462, essv6957401, essv6748917, essv6889855
SamplesSSM059, SSM008, SSM027, SSM087, SSM088, SSM058, SSM021, SSM029, SSM062, SSM026, SSM089, SSM031, SSM001, SSM086, SSM033, SSM006, SSM078, SSM053, SSM052, SSM056, SSM063, SSM012
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)esv2734145
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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