A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730960



Internal ID10314596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157653076..157692410hg38UCSC Ensembl
Outerchr5:157080084..157119418hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3839335
hg1939335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938853, essv6943205, essv6890076, essv6751473, essv6708290, essv6855011, essv6872614, essv6969211, essv6700897, essv6914959, essv6841103, essv6759142, essv6896657, essv6963476, essv6848893, essv6786245, essv6798693, essv6818022, essv6865414, essv6884095, essv6918602, essv6822318, essv6922915, essv6947670, essv6959418, essv6736853, essv6694008, essv6683881, essv6670915, essv6759900, essv6907379
SamplesSSM008, SSM027, SSM024, SSM079, SSM087, SSM097, SSM039, SSM050, SSM041, SSM057, SSM023, SSM028, SSM084, SSM018, SSM069, SSM061, SSM089, SSM017, SSM031, SSM014, SSM086, SSM072, SSM078, SSM016, SSM037, SSM022, SSM091, SSM095, SSM034, SSM004, SSM099
Known GenesC5orf52
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)esv2730960
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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