A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732839



Internal ID10316475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146808794..146815903hg38UCSC Ensembl
Outerchr6:147129930..147137039hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387110
hg197110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934840, essv6802658, essv6761842, essv6754644, essv6952009, essv6746027, essv6855387, essv6963898, essv6872858, essv6740078, essv6962373, essv6765095, essv6918941, essv6705137, essv6875823, essv6765094, essv6680491, essv6897820, essv6762713, essv6974967, essv6746028, essv6826843, essv6875822, essv6818369, essv6680492, essv6869860, essv6740077, essv6845049, essv6762712, essv6897931, essv6704565, essv6963899, essv6743257, essv6893635, essv6748837, essv6841358, essv6845050, essv6957183, essv6796532, essv6818368, essv6729697, essv6770919, essv6760127, essv6667628, essv6748836, essv6751685, essv6957182, essv6952010, essv6761831, essv6767626, essv6729710, essv6969476, essv6727222, essv6930554, essv6704554, essv6743256, essv6881516, essv6760128, essv6737039, essv6802657, essv6774678, essv6911449, essv6737040, essv6974968, essv6962484, essv6855389, essv6969475
SamplesSSM008, SSM027, SSM046, SSM064, SSM065, SSM087, SSM009, SSM073, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM061, SSM029, SSM062, SSM026, SSM017, SSM094, SSM001, SSM033, SSM066, SSM006, SSM085, SSM040, SSM020, SSM007, SSM015, SSM078, SSM053, SSM010, SSM091, SSM055, SSM025, SSM052, SSM098, SSM056, SSM030, SSM063
Known GenesADGB
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)esv2732839
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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