A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734238



Internal ID9968565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:34607611..34608907hg38UCSC Ensembl
Outerchr7:34647223..34648519hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834000, essv6727346, essv6915264, essv6964122, essv6767728, essv6861140, essv6740211, essv6963339, essv6743338, essv6680616, essv6708636, essv6799109, essv6901941, essv6855583, essv6757559, essv6734520, essv6737147, essv6865856, essv6797610, essv6786655, essv6760218, essv6818499, essv6969595, essv6969634, essv6930699, essv6957426, essv6698071, essv6830388, essv6889910, essv6878778, essv6849485, essv6690694, essv6684205, essv6782458, essv6765165, essv6890394, essv6671474, essv6751791, essv6975215, essv6896916, essv6939272, essv6907805, essv6919100
SamplesSSM059, SSM036, SSM027, SSM046, SSM064, SSM087, SSM038, SSM097, SSM009, SSM093, SSM050, SSM088, SSM002, SSM041, SSM057, SSM028, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM031, SSM001, SSM014, SSM086, SSM033, SSM068, SSM081, SSM072, SSM082, SSM020, SSM078, SSM016, SSM053, SSM022, SSM034, SSM004, SSM099, SSM052, SSM049, SSM063, SSM012
Known GenesNPSR1-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)esv2734238
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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