A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647808



Internal ID7034547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42117846..42120664hg38UCSC Ensembl
Innerchr22:42117846..42120664hg38UCSC Ensembl
Outerchr22:42117530..42121025hg38UCSC Ensembl
chr22:42513850..42516668hg19UCSC Ensembl
Innerchr22:42513850..42516668hg19UCSC Ensembl
Outerchr22:42513534..42517029hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430366, essv16430364, essv16430365, essv16430363, essv16430367
SamplesHG03298, HG01990, HG01342, HG02974, HG01914
Known GenesNDUFA6-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647808
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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