A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10858321



Internal ID5745780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220349499..220361314hg38UCSC Ensembl
Innerchr2:220349507..220361307hg38UCSC Ensembl
Outerchr2:220349492..220361322hg38UCSC Ensembl
chr2:221214220..221226035hg19UCSC Ensembl
Innerchr2:221214228..221226028hg19UCSC Ensembl
Outerchr2:221214213..221226043hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3811816
hg1911816
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594379
Supporting Variants
SamplesNA19118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10858321
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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