A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729458



Internal ID9963773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1272616..1273754hg38UCSC Ensembl
Outerchr5:1272731..1273869hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683733, essv6878391, essv6934388, essv6676252, essv6869472, essv6911031, essv6889915, essv6739698, essv6938710, essv6730612, essv6947530, essv6883978, essv6777892, essv6914849, essv6918459, essv6790236, essv6822181, essv6823754, essv6805189, essv6840964, essv6907191, essv6757743, essv6757191, essv6676231, essv6864930, essv6958285, essv6829896, essv6708161, essv6852897, essv6754275, essv6854773, essv6811062, essv6762441, essv6956509, essv6701821, essv6711580, essv6690174, essv6865232, essv6893228, essv6726847, essv6925596, essv6848651, essv6931928, essv6745701, essv6726309, essv6700723, essv6885531, essv6926554, essv6886780, essv6860444
SamplesSSM059, SSM036, SSM008, SSM024, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM058, SSM084, SSM090, SSM021, SSM047, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM032, SSM003, SSM067, SSM001, SSM014, SSM086, SSM006, SSM081, SSM007, SSM015, SSM016, SSM005, SSM076, SSM022, SSM010, SSM055, SSM070, SSM095, SSM034, SSM004, SSM052, SSM098, SSM012
Known GenesTERT
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)esv2729458
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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