A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689134



Internal ID9755408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44884304..44884455hg38UCSC Ensembl
Outerchr22:45280184..45280335hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724377, esv2724378, esv2724375
Supporting Variants
SamplesSSM035
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)essv6689134
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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