A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2169204



Internal ID2679242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29695970..29696058hg19UCSC Ensembl
Outerchr22:29695811..29696217hg19UCSC Ensembl
Innerchr22:28025970..28026058hg18UCSC Ensembl
Outerchr22:28025811..28026217hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4564598
SamplesNA18507
Known GenesEWSR1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2169204
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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