A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730455



Internal ID10314091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:91278814..91279178hg38UCSC Ensembl
Outerchr5:90574631..90574995hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884043, essv6748571, essv6956663, essv6777984, essv6786188, essv6860566, essv6844741, essv6872560, essv6833603, essv6893309, essv6886847, essv6829983, essv6826183, essv6903550, essv6700831, essv6865347, essv6853753, essv6822264, essv6899530, essv6854923, essv6808237, essv6881255, essv6890020, essv6974418, essv6794455, essv6802405, essv6817951, essv6798638, essv6730689
SamplesSSM100, SSM071, SSM075, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM073, SSM088, SSM047, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM067, SSM085, SSM081, SSM072, SSM082, SSM078, SSM080, SSM091, SSM095, SSM098, SSM056
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)esv2730455
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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