A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647807



Internal ID7034546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41973840..41974543hg38UCSC Ensembl
Innerchr22:41973890..41974493hg38UCSC Ensembl
Outerchr22:41973726..41974657hg38UCSC Ensembl
chr22:42369844..42370547hg19UCSC Ensembl
Innerchr22:42369894..42370497hg19UCSC Ensembl
Outerchr22:42369730..42370661hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430362, essv16430360, essv16430357, essv16430356, essv16430361, essv16430355, essv16430359, essv16430358
SamplesHG01985, HG02574, HG03246, HG02573, HG03045, HG02571, HG03301, HG02679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647807
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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