A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10861916



Internal ID5935687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221667380..221675434hg38UCSC Ensembl
chr2:222532100..222540154hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg388055
hg198055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594408
Supporting Variants
SamplesNA19347
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10861916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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