A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16370917



Internal ID3174908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21006311..21015449hg38UCSC Ensembl
Innerchr22:21006811..21014949hg38UCSC Ensembl
Outerchr22:21005311..21016449hg38UCSC Ensembl
chr22:21360600..21369738hg19UCSC Ensembl
Innerchr22:21361100..21369238hg19UCSC Ensembl
Outerchr22:21359600..21370738hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg389139
hg199139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647307
Supporting Variants
SamplesHG02790
Known GenesP2RX6, THAP7-AS1, TUBA3FP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16370917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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