A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807250



Internal ID10208284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44889989..44890122hg38UCSC Ensembl
Outerchr22:45285869..45286002hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724380, esv2724381, esv2724383
Supporting Variants
SamplesSSM074
Known GenesPHF21B
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)essv6807250
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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