A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739038



Internal ID10322674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124895091..124895772hg38UCSC Ensembl
Outerchr9:127657370..127658051hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958517, essv6823224, essv6749367, essv6965087, essv6905774, essv6819189
SamplesSSM027, SSM079, SSM002, SSM026, SSM078, SSM056
Known GenesGOLGA1
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)esv2739038
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