A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733112



Internal ID9967434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163322449..163323270hg38UCSC Ensembl
Outerchr6:163743481..163744302hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822569, essv6969508, essv6676704, essv6934865, essv6926928, essv6719572, essv6939157, essv6730999, essv6727247, essv6705158, essv6975016, essv6762065, essv6770936, essv6715660, essv6782345, essv6841383, essv6774699, essv6743281, essv6748857, essv6845072, essv6915180, essv6698021, essv6680514, essv6963942, essv6830305, essv6918970, essv6911473, essv6899805, essv6889088
SamplesSSM100, SSM008, SSM027, SSM046, SSM079, SSM065, SSM038, SSM028, SSM084, SSM021, SSM047, SSM029, SSM017, SSM019, SSM032, SSM044, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM015, SSM016, SSM053, SSM022, SSM043, SSM056, SSM012
Known GenesPACRG-AS1
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)esv2733112
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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