A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647929



Internal ID7034668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45305268..45325830hg38UCSC Ensembl
chr22:45701149..45721711hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3820563
hg1920563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16443308
SamplesNA12005
Known GenesFAM118A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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