A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10859445



Internal ID5370634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220832472..220835989hg38UCSC Ensembl
Innerchr2:220832522..220835939hg38UCSC Ensembl
Outerchr2:220832399..220836062hg38UCSC Ensembl
chr2:221697192..221700709hg19UCSC Ensembl
Innerchr2:221697242..221700659hg19UCSC Ensembl
Outerchr2:221697119..221700782hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383518
hg193518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594391
Supporting Variants
SamplesNA18915
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10859445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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