A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647625



Internal ID6687679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33371930..33373918hg38UCSC Ensembl
Innerchr22:33371980..33373868hg38UCSC Ensembl
Outerchr22:33371878..33373970hg38UCSC Ensembl
chr22:33767916..33769904hg19UCSC Ensembl
Innerchr22:33767966..33769854hg19UCSC Ensembl
Outerchr22:33767864..33769956hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381989
hg191989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408064, essv16408063
SamplesHG00268, NA19434
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647625
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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