A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915496



Internal ID9638018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29237105..29239377hg38UCSC Ensembl
Outerchr22:29633094..29635366hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382273
hg192273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724121
Supporting Variants
SamplesSSM002
Known GenesEMID1
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)essv6915496
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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