A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647564



Internal ID7034304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30618613..30621741hg38UCSC Ensembl
Innerchr22:30618613..30621741hg38UCSC Ensembl
Outerchr22:30618427..30621861hg38UCSC Ensembl
chr22:31014600..31017728hg19UCSC Ensembl
Innerchr22:31014600..31017728hg19UCSC Ensembl
Outerchr22:31014414..31017848hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383129
hg193129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16402709
SamplesHG02023
Known GenesTCN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647564
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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