A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2732752

Internal ID9967073
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136275638..136275869hg38UCSC Ensembl
Outerchr6:136596776..136597007hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872847, essv6887089, essv6727215, essv6963882, essv6878699, essv6690563, essv6875813, essv6865712, essv6719535, essv6947899, essv6790602, essv6730969, essv6808517, essv6893625, essv6711928, essv6697994, essv6962106, essv6751676, essv6715625, essv6830267, essv6907689, essv6881504, essv6849283, essv6939115, essv6782305, essv6826512, essv6833863, essv6778293, essv6915144, essv6746021, essv6814418, essv6890309, essv6708523, essv6974950, essv6841348, essv6837525, essv6869847, essv6684084, essv6811408, essv6952000, essv6705124, essv6888711, essv6899783, essv6943538, essv6740062, essv6671253, essv6860986, essv6701190, essv6786494
SamplesSSM022, SSM027, SSM092, SSM082, SSM086, SSM036, SSM055, SSM091, SSM084, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM031, SSM025, SSM016, SSM057, SSM039, SSM024, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM012, SSM093, SSM100, SSM029, SSM047, SSM069, SSM034, SSM038, SSM046, SSM096, SSM023, SSM052, SSM068, SSM044, SSM004, SSM075, SSM014, SSM098, SSM076, SSM081, SSM070, SSM080
Known GenesBCLAF1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2732752
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0

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