A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664952



Internal ID9931057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45037506..45038061hg38UCSC Ensembl
chr22:45433387..45433942hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5599482, essv6004821, essv6277804, essv6318202, essv5974583
SamplesNA19395, NA18873, NA19116, NA19316, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664952
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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