A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732258



Internal ID10315894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71028754..71028987hg38UCSC Ensembl
Outerchr6:71738457..71738690hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701120, essv6808461, essv6881452, essv6849189, essv6697946, essv6818273, essv6719472, essv6723274, essv6907612, essv6811355, essv6802600, essv6794694, essv6676613, essv6671160, essv6855291, essv6890261, essv6974847, essv6786442, essv6963791
SamplesSSM071, SSM027, SSM075, SSM045, SSM087, SSM038, SSM097, SSM039, SSM073, SSM069, SSM029, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM078, SSM076
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)esv2732258
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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