A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16370918



Internal ID6372734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21008293..21023987hg38UCSC Ensembl
Innerchr22:21008793..21023487hg38UCSC Ensembl
Outerchr22:21007293..21024987hg38UCSC Ensembl
chr22:21362582..21378276hg19UCSC Ensembl
Innerchr22:21363082..21377776hg19UCSC Ensembl
Outerchr22:21361582..21379276hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3815695
hg1915695
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647308
Supporting Variants
SamplesHG00282
Known GenesP2RX6, THAP7-AS1, TUBA3FP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16370918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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