A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724066



Internal ID10135142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93614853..93615011hg38UCSC Ensembl
Outerchr9:96377135..96377293hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738791, esv2738789
Supporting Variants
SamplesSSM045
Known GenesPHF2
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)essv6724066
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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