A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16457743



Internal ID452258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49656034..49664955hg38UCSC Ensembl
Innerchr22:49656184..49664805hg38UCSC Ensembl
Outerchr22:49655884..49665105hg38UCSC Ensembl
chr22:50049682..50058603hg19UCSC Ensembl
Innerchr22:50049832..50058453hg19UCSC Ensembl
Outerchr22:50049532..50058753hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388922
hg198922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648067
Supporting Variants
SamplesHG00142
Known GenesC22orf34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16457743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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