A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16431179



Internal ID6432995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42271998..42279309hg38UCSC Ensembl
Innerchr22:42272011..42279296hg38UCSC Ensembl
Outerchr22:42271985..42279322hg38UCSC Ensembl
chr22:42668004..42675315hg19UCSC Ensembl
Innerchr22:42668017..42675302hg19UCSC Ensembl
Outerchr22:42667991..42675328hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387312
hg197312
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647816
Supporting Variants
SamplesHG02860
Known GenesLOC388906
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16431179
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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