A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647569



Internal ID6687623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30837437..30925653hg38UCSC Ensembl
chr22:31233424..31321640hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3888217
hg1988217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403043, essv16403045, essv16403044
SamplesNA19455, NA19346, HG03777
Known GenesMORC2-AS1, OSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647569
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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