A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732067



Internal ID10315703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51391481..51391792hg38UCSC Ensembl
Outerchr6:51256279..51256590hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826428, essv6974802, essv6671130, essv6963755, essv6719452, essv6708459, essv6701096, essv6818238, essv6811328, essv6855343, essv6767552, essv6957033, essv6684003, essv6808437, essv6907581, essv6786417, essv6881430, essv6822451, essv6943455, essv6878636, essv6705048, essv6849157, essv6860885, essv6865607, essv6690478, essv6794667, essv6893548, essv6837448, essv6890234
SamplesSSM036, SSM083, SSM071, SSM027, SSM075, SSM011, SSM064, SSM079, SSM097, SSM039, SSM093, SSM088, SSM041, SSM023, SSM069, SSM029, SSM026, SSM089, SSM094, SSM031, SSM044, SSM014, SSM086, SSM040, SSM078, SSM080, SSM076, SSM034, SSM098
Known Genes
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)esv2732067
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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