A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647892



Internal ID7034631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44253901..44257451hg38UCSC Ensembl
chr22:44649781..44653331hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383551
hg193551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16437019, essv16437020, essv16437021
SamplesNA19451, NA19472, NA19074
Known GenesKIAA1644
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647892
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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