A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10298121



Internal ID299937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220115316..220117959hg38UCSC Ensembl
Innerchr1:220115324..220117951hg38UCSC Ensembl
Outerchr1:220115308..220117967hg38UCSC Ensembl
chr1:220288658..220291301hg19UCSC Ensembl
Innerchr1:220288666..220291293hg19UCSC Ensembl
Outerchr1:220288650..220291309hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382644
hg192644
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588893
Supporting Variants
SamplesHG00698
Known GenesIARS2, MIR215, RNU5F-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10298121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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