A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647220



Internal ID7033961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17506809..17515790hg38UCSC Ensembl
Innerchr22:17506809..17515790hg38UCSC Ensembl
Outerchr22:17506671..17515952hg38UCSC Ensembl
chr22:17985841..17994819hg19UCSC Ensembl
Innerchr22:17985841..17994819hg19UCSC Ensembl
Outerchr22:17985703..17994981hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg388982
hg198979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16357054
SamplesHG03916
Known GenesCECR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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