A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739131



Internal ID10322767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132421312..132422232hg38UCSC Ensembl
Outerchr9:135296699..135297619hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802587, essv6866614, essv6749374, essv6746529, essv6681205, essv6948634, essv6755221, essv6876358, essv6668011, essv6970335, essv6905841, essv6895532, essv6760678, essv6795607, essv6831966, essv6752266, essv6712644, essv6965100, essv6677416, essv6768287, essv6912183, essv6775325, essv6783104, essv6757950, essv6935629, essv6809078, essv6935660, essv6856552, essv6968085, essv6976351, essv6779051, essv6695097, essv6919722, essv6952790, essv6740722, essv6743735, essv6737603, essv6771655
SamplesSSM059, SSM008, SSM071, SSM027, SSM024, SSM075, SSM065, SSM087, SSM009, SSM050, SSM042, SSM002, SSM057, SSM058, SSM028, SSM092, SSM021, SSM061, SSM029, SSM089, SSM017, SSM032, SSM003, SSM067, SSM033, SSM066, SSM068, SSM015, SSM053, SSM037, SSM010, SSM055, SSM025, SSM004, SSM052, SSM056, SSM030, SSM012
Known GenesC9orf171
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)esv2739131
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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