A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16408064



Internal ID6409880
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647625
Supporting Variants
SamplesNA19434
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16408064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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