A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2729458

Internal ID9963773
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1272616..1273754hg38UCSC Ensembl
Outerchr5:1272731..1273869hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683733, essv6886780, essv6777892, essv6726847, essv6805189, essv6730612, essv6911031, essv6676252, essv6840964, essv6925596, essv6701821, essv6754275, essv6947530, essv6860444, essv6757743, essv6864930, essv6889915, essv6822181, essv6934388, essv6790236, essv6926554, essv6745701, essv6829896, essv6811062, essv6938710, essv6726309, essv6878391, essv6739698, essv6757191, essv6893228, essv6958285, essv6865232, essv6700723, essv6885531, essv6823754, essv6854773, essv6883978, essv6907191, essv6711580, essv6869472, essv6918459, essv6708161, essv6931928, essv6914849, essv6762441, essv6956509, essv6848651, essv6690174, essv6852897, essv6676231
SamplesSSM010, SSM022, SSM007, SSM086, SSM006, SSM036, SSM055, SSM084, SSM042, SSM088, SSM089, SSM090, SSM016, SSM001, SSM032, SSM039, SSM024, SSM067, SSM097, SSM041, SSM062, SSM005, SSM012, SSM093, SSM017, SSM011, SSM003, SSM095, SSM047, SSM021, SSM002, SSM034, SSM087, SSM046, SSM019, SSM096, SSM079, SSM052, SSM074, SSM004, SSM015, SSM026, SSM014, SSM008, SSM098, SSM076, SSM058, SSM059, SSM081, SSM070
Known GenesTERT
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2729458
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0

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