A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731061



Internal ID10314697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170149877..170150094hg38UCSC Ensembl
Outerchr5:169576881..169577098hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680267, essv6745837, essv6814204, essv6727409, essv6956770, essv6914964, essv6676419, essv6687139, essv6700911, essv6881306, essv6959485, essv6694015, essv6708296, essv6869582, essv6824876, essv6930319, essv6963494, essv6723098, essv6896663, essv6719284, essv6826251, essv6793710, essv6911179, essv6860655, essv6854388, essv6778047, essv6770651, essv6918611, essv6822326, essv6790367, essv6926665, essv6794515, essv6974542, essv6907393, essv6855030, essv6884106, essv6943218, essv6848906, essv6798703, essv6830052, essv6805300, essv6899579, essv6818035, essv6774492, essv6808289, essv6767403, essv6711712, essv6677343
SamplesSSM100, SSM071, SSM027, SSM075, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM039, SSM009, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM029, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM081, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM010, SSM055, SSM070, SSM095, SSM004, SSM099
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)esv2731061
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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