A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746007



Internal ID10326977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30286048..30662135hg38UCSC Ensembl
Outerchr1:30758895..31134982hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38376088
hg19376088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933324, essv6898621, essv6941801, essv6859206, essv6917452, essv6972379, essv6699608, essv6967948, essv6797465, essv6773451, essv6759063, essv6871730, essv6941802, essv6729641, essv6769538, essv6692786, essv6682841, essv6744951, essv6929072, essv6692788, essv6914010, essv6710605, essv6868727, essv6868726, essv6748575, essv6797466, essv6793308, essv6719054, essv6914011, essv6669365, essv6954769, essv6967949, essv6789171, essv6666912, essv6789170, essv6719065, essv6843905, essv6929071, essv6714262, essv6880430, essv6785007, essv6880432, essv6725860, essv6719043, essv6877675, essv6925703, essv6895857
SamplesSSM100, SSM008, SSM071, SSM046, SSM065, SSM039, SSM093, SSM042, SSM088, SSM023, SSM028, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM094, SSM066, SSM085, SSM072, SSM020, SSM007, SSM016, SSM005, SSM037, SSM091, SSM055, SSM070, SSM034, SSM099, SSM043, SSM030
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)esv2746007
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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