A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736844



Internal ID9971176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31713742..31714071hg38UCSC Ensembl
Outerchr8:31571258..31571587hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782864, essv6727722, essv6900162, essv6964714, essv6890727, essv6677168, essv6811762, essv6887494, essv6958110, essv6795337, essv6897184, essv6827036, essv6683132, essv6850145, essv6787078, essv6866329, essv6799531, essv6818916, essv6860453, essv6822988, essv6672075, essv6870262, essv6894079, essv6908224, essv6856175, essv6944175, essv6684529, essv6705637, essv6808882, essv6975934, essv6861585, essv6687783, essv6691046
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM097, SSM088, SSM023, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM014, SSM086, SSM068, SSM040, SSM072, SSM078, SSM005, SSM080, SSM076, SSM034, SSM099, SSM098
Known GenesNRG1
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)esv2736844
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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