A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730601



Internal ID10314237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:112888505..112891280hg38UCSC Ensembl
Outerchr5:112224202..112226977hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg382776
hg192776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6878469, essv6704839, essv6914926, essv6969176, essv6893329, essv6802419, essv6808255, essv6833615, essv6947630, essv6938373, essv6907328, essv6903561, essv6959074, essv6951694, essv6922876, essv6860587, essv6869550, essv6711666, essv6693968, essv6943159, essv6817978, essv6726956, essv6899541, essv6764868, essv6770606, essv6798652, essv6822284, essv6759867, essv6926451, essv6871375, essv6854945, essv6680229, essv6751434, essv6739808, essv6723052, essv6676966, essv6702399, essv6762495, essv6670852
SamplesSSM100, SSM024, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM013, SSM073, SSM093, SSM042, SSM088, SSM002, SSM057, SSM023, SSM028, SSM090, SSM018, SSM061, SSM062, SSM003, SSM031, SSM001, SSM014, SSM033, SSM006, SSM040, SSM072, SSM082, SSM078, SSM016, SSM005, SSM037, SSM025, SSM004, SSM052, SSM098, SSM063
Known GenesREEP5, SRP19
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)esv2730601
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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