A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732927



Internal ID10316563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:153610588..153612004hg38UCSC Ensembl
Outerchr6:153931723..153933139hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg381417
hg191417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963261, essv6737053, essv6855398, essv6888933, essv6765104, essv6826943, essv6770925, essv6748846, essv6734445, essv6704610, essv6760135, essv6757493, essv6762723, essv6818386, essv6934850, essv6680498, essv6740086, essv6746037, essv6974986, essv6778308, essv6898486
SamplesSSM059, SSM065, SSM087, SSM050, SSM002, SSM021, SSM061, SSM029, SSM062, SSM067, SSM001, SSM033, SSM006, SSM078, SSM010, SSM055, SSM052, SSM049, SSM056, SSM063, SSM012
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)esv2732927
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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