A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905983



Internal ID9669805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49856503..49856956hg38UCSC Ensembl
Outerchr22:50250151..50250604hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724709, esv2724710
Supporting Variants
SamplesSSM013
Known GenesZBED4
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)essv6905983
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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