A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16439201



Internal ID2664588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44863001..44864942hg38UCSC Ensembl
Innerchr22:44863001..44864942hg38UCSC Ensembl
Outerchr22:44862712..44865245hg38UCSC Ensembl
chr22:45258881..45260822hg19UCSC Ensembl
Innerchr22:45258881..45260822hg19UCSC Ensembl
Outerchr22:45258592..45261125hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647911
Supporting Variants
SamplesHG02356
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16439201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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