A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647888



Internal ID7034627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44168044..44172118hg38UCSC Ensembl
Innerchr22:44168061..44172101hg38UCSC Ensembl
Outerchr22:44168027..44172135hg38UCSC Ensembl
chr22:44563924..44567998hg19UCSC Ensembl
Innerchr22:44563941..44567981hg19UCSC Ensembl
Outerchr22:44563907..44568015hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384075
hg194075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16436790, essv16436789
SamplesNA20766, HG00364
Known GenesPARVB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647888
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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