A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731404



Internal ID10315040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1141475..1142993hg38UCSC Ensembl
Outerchr6:1141710..1143228hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865458, essv6826277, essv6751506, essv6811207, essv6860688, essv6743056, essv6719305, essv6670967, essv6854554, essv6739879, essv6818078, essv6944039, essv6837321, essv6907425, essv6700941, essv6974606, essv6934599, essv6890107, essv6734268, essv6855077, essv6848960, essv6890108, essv6794545, essv6963555, essv6865457, essv6687156
SamplesSSM083, SSM071, SSM027, SSM011, SSM087, SSM097, SSM039, SSM088, SSM057, SSM021, SSM029, SSM089, SSM035, SSM031, SSM044, SSM001, SSM014, SSM086, SSM078, SSM053, SSM080, SSM076, SSM052, SSM049
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)esv2731404
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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