A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739146



Internal ID9973487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132883605..132884734hg38UCSC Ensembl
Outerchr9:135758992..135760121hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677418, essv6882036, essv6815107, essv6838235, essv6691250, essv6939912, essv6705844, essv6887690, essv6799791, essv6702015, essv6687968, essv6862520, essv6830929
SamplesSSM036, SSM083, SSM011, SSM039, SSM096, SSM035, SSM094, SSM032, SSM081, SSM040, SSM072, SSM077, SSM022
Known GenesC9orf9
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)esv2739146
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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