A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648092



Internal ID7034829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50627978..50640523hg38UCSC Ensembl
chr22:51066406..51078951hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3812546
hg1912546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16462365, essv16462364, essv16462366, essv16462367, essv16462362, essv16462363
SamplesHG00536, HG02277, NA19152, NA18517, HG04171, HG02051
Known GenesARSA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648092
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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