A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732752



Internal ID9967073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136275638..136275869hg38UCSC Ensembl
Outerchr6:136596776..136597007hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38232
hg19232
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
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)esv2732752
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer