A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647307



Internal ID7034048
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370917, essv16370916
SamplesHG02790, HG02013
Known GenesP2RX6, THAP7-AS1, TUBA3FP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647307
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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