A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6262009



Internal ID9239412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29283419..29285901hg38UCSC Ensembl
chr22:29679408..29681890hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382483
hg192483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669638
Supporting Variants
SamplesNA19455
Known GenesEWSR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6262009
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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