A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6245784



Internal ID9223187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45158837..45161242hg38UCSC Ensembl
chr22:45554718..45557123hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382406
hg192406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670716
Supporting Variants
SamplesNA18553
Known GenesLOC100506714
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6245784
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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