A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744831



Internal ID9805635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45158856..45161220hg38UCSC Ensembl
Outerchr22:45554737..45557101hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382365
hg192365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724388
Supporting Variants
SamplesSSM053
Known GenesLOC100506714
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)essv6744831
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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