A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732035



Internal ID10315671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47311834..47312703hg38UCSC Ensembl
Outerchr6:47279570..47280439hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928729, essv6860883, essv6795654, essv6736968, essv6761087, essv6818233, essv6765031, essv6855244, essv6899720, essv6957026, essv6739982, essv6745945, essv6963749, essv6974796, essv6671124, essv6849149, essv6748759, essv6934738, essv6760048, essv6734362, essv6667572, essv6751606, essv6754553
SamplesSSM100, SSM008, SSM027, SSM087, SSM009, SSM050, SSM088, SSM057, SSM058, SSM021, SSM061, SSM029, SSM026, SSM003, SSM031, SSM086, SSM078, SSM055, SSM052, SSM049, SSM056, SSM030, SSM063
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)esv2732035
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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