A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737583



Internal ID9800620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112502040..112502664hg38UCSC Ensembl
Outerchr9:115264320..115264944hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738947
Supporting Variants
SamplesSSM050
Known GenesKIAA1958
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)essv6737583
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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