A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927571



Internal ID9690212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132821642..132822446hg38UCSC Ensembl
Outerchr9:135697029..135697833hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739138, esv2739143
Supporting Variants
SamplesSSM019
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)essv6927571
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