A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16364970



Internal ID6366786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19185597..19186888hg38UCSC Ensembl
Innerchr22:19185597..19186888hg38UCSC Ensembl
Outerchr22:19185278..19187178hg38UCSC Ensembl
chr22:19173109..19174400hg19UCSC Ensembl
Innerchr22:19173109..19174400hg19UCSC Ensembl
Outerchr22:19172790..19174690hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647265
Supporting Variants
SamplesHG00662
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16364970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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