A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702017



Internal ID9769986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133255004..133255681hg38UCSC Ensembl
Outerchr9:136130391..136131068hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739160, esv2739156, esv2739138
Supporting Variants
SamplesSSM039
Known GenesABO
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)essv6702017
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