A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647408



Internal ID6687463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23578189..23637770hg38UCSC Ensembl
chr22:23920376..23979957hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3859582
hg1959582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16385151, essv16385150, essv16385148, essv16385149, essv16385152
SamplesHG02943, HG03130, NA18923, HG03547, NA19235
Known GenesC22orf43, IGLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647408
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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