A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734146



Internal ID10317782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25601366..25602569hg38UCSC Ensembl
Outerchr7:25640986..25642189hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1079e201
Supporting Variantsessv6762769, essv6680605, essv6818488, essv6855559, essv6964104, essv6762831, essv6861126, essv6865842, essv6757549, essv6934995, essv6740196, essv6671453, essv6754726, essv6765159, essv6968706, essv6705065, essv6743329, essv6957401, essv6748917, essv6889855
SamplesSSM059, SSM008, SSM027, SSM087, SSM088, SSM058, SSM021, SSM062, SSM026, SSM089, SSM031, SSM001, 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)esv2734146
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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