A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744806



Internal ID9805659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:28781352..28781772hg38UCSC Ensembl
Outerchr22:29177340..29177760hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724119
Supporting Variants
SamplesSSM053
Known GenesCCDC117
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)essv6744806
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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