A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858972



Internal ID10256559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48507176..48507255hg38UCSC Ensembl
Outerchr22:48902988..48903067hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724548, esv2724549
Supporting Variants
SamplesSSM087
Known GenesFAM19A5
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)essv6858972
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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