A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16407737



Internal ID6409553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33339893..33341078hg38UCSC Ensembl
Innerchr22:33339893..33341078hg38UCSC Ensembl
Outerchr22:33339655..33341473hg38UCSC Ensembl
chr22:33735879..33737064hg19UCSC Ensembl
Innerchr22:33735879..33737064hg19UCSC Ensembl
Outerchr22:33735641..33737459hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647623
Supporting Variants
SamplesHG03127
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16407737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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