A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648077



Internal ID6688128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49999025..50020916hg38UCSC Ensembl
Innerchr22:49999525..50020416hg38UCSC Ensembl
Outerchr22:49998025..50021916hg38UCSC Ensembl
chr22:50437454..50459345hg19UCSC Ensembl
Innerchr22:50437954..50458845hg19UCSC Ensembl
Outerchr22:50436454..50460345hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3821892
hg1921892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16461753
SamplesHG02410
Known GenesIL17REL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648077
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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