A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819121



Internal ID9872128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69123220..69128430hg38UCSC Ensembl
Outerchr9:71738136..71743346hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385211
hg195211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738532
Supporting Variants
SamplesSSM078
Known GenesTJP2
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)essv6819121
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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