A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972076



Internal ID10073299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42405951..42406338hg38UCSC Ensembl
Outerchr22:42801957..42802344hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724279, esv2724280
Supporting Variants
SamplesSSM028
Known GenesNFAM1
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)essv6972076
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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