A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739144



Internal ID9973485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132821756..132822043hg38UCSC Ensembl
Outerchr9:135697143..135697430hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862509, essv6811924, essv6827286, essv6890923, essv6687967, essv6908458
SamplesSSM011, SSM097, SSM035, SSM014, SSM080, SSM076
Known GenesAK8
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)esv2739144
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer