A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732959



Internal ID10316595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:156178403..156179457hg38UCSC Ensembl
Outerchr6:156499537..156500591hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381055
hg191055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794777, essv6837551, essv6855407, essv6790617, essv6875836, essv6963924, essv6680504, essv6930568, essv6872872, essv6671298, essv6856176, essv6734447, essv6818392, essv6798986, essv6794775, essv6974993, essv6694283, essv6743273, essv6957206, essv6887107, essv6822552, essv6748849, essv6861013, essv6746040, essv6719560, essv6802669, essv6962317, essv6737059, essv6974992, essv6830293, essv6723349, essv6676692, essv6751700, essv6671300, essv6711949, essv6929818, essv6947920, essv6760139, essv6934854, essv6915161, essv6761987, essv6926919, essv6952021
SamplesSSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM079, SSM087, SSM073, SSM050, SSM042, SSM088, SSM057, SSM092, SSM021, SSM061, SSM029, SSM096, SSM026, SSM019, SSM032, SSM003, SSM031, SSM044, SSM033, SSM081, SSM072, SSM020, SSM078, SSM016, SSM053, SSM037, SSM091, SSM055, SSM070, SSM025, SSM004, SSM049, SSM056
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)esv2732959
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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