A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16403912



Internal ID6156188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31499443..31515048hg38UCSC Ensembl
Innerchr22:31499445..31515047hg38UCSC Ensembl
Outerchr22:31499442..31515050hg38UCSC Ensembl
chr22:31895429..31911034hg19UCSC Ensembl
Innerchr22:31895431..31911033hg19UCSC Ensembl
Outerchr22:31895428..31911036hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3815606
hg1915606
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647589
Supporting Variants
SamplesNA19700
Known GenesSFI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16403912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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