A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729459



Internal ID9963774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1273150..1273736hg38UCSC Ensembl
Outerchr5:1273265..1273851hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv917e201
Supporting Variantsessv6683733, essv6886780, essv6777892, essv6726847, essv6730612, essv6805189, essv6911031, essv6715237, essv6676252, essv6840964, essv6925596, essv6701821, essv6881194, essv6860444, essv6757743, essv6864930, essv6822181, essv6719127, essv6903464, essv6790236, essv6922786, essv6926554, essv6745701, essv6829896, essv6811062, essv6938710, essv6726309, essv6878391, essv6781929, essv6739698, essv6757191, essv6893228, essv6958285, essv6865232, essv6700723, essv6885531, essv6826090, essv6854773, essv6883978, essv6711580, essv6907191, essv6869472, essv6918459, essv6708161, essv6931928, essv6914849, essv6762441, essv6956509, essv6848651, essv6690174, essv6852897, essv6676231
SamplesSSM022, SSM007, SSM013, SSM086, SSM006, SSM036, SSM055, SSM084, SSM042, SSM043, SSM088, SSM089, SSM090, SSM016, SSM001, SSM032, SSM039, SSM067, SSM094, SSM041, SSM062, SSM005, SSM012, SSM093, SSM017, SSM011, SSM003, SSM095, SSM047, SSM002, SSM034, SSM087, SSM046, SSM019, SSM096, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
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)esv2729459
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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