A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16430357



Internal ID6432173
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647807
Supporting Variants
SamplesHG02573
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16430357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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