A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734118



Internal ID10317754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22162575..22163614hg38UCSC Ensembl
Outerchr7:22202193..22203232hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849456, essv6901841, essv6930573, essv6934990, essv6757544, essv6968484, essv6737137, essv6743327, essv6748912, essv6814530, essv6765155, essv6957395, essv6746099, essv6975185, essv6705031, essv6797499, essv6963206, essv6751779, essv6760207, essv6818480, essv6762762, essv6762775, essv6919084, essv6889833, essv6734505, essv6855552, essv6754723, essv6861118
SamplesSSM059, SSM008, SSM087, SSM009, SSM050, SSM088, SSM002, SSM057, SSM058, SSM021, SSM061, SSM029, SSM062, SSM026, SSM017, SSM003, SSM001, SSM086, SSM006, SSM078, SSM053, SSM077, SSM055, SSM004, SSM049, SSM056, SSM063, SSM012
Known GenesRAPGEF5
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)esv2734118
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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