A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647579



Internal ID7034319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31018729..31033358hg38UCSC Ensembl
chr22:31414715..31429344hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3814630
hg1914630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403066, essv16403065, essv16403068, essv16403067
SamplesHG01503, HG01414, HG02223, NA19773
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647579
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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