A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815841



Internal ID3977846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197652485..197658019hg38UCSC Ensembl
Innerchr2:197652494..197658010hg38UCSC Ensembl
Outerchr2:197652476..197658028hg38UCSC Ensembl
chr2:198517209..198522743hg19UCSC Ensembl
Innerchr2:198517218..198522734hg19UCSC Ensembl
Outerchr2:198517200..198522752hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385535
hg195535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593908
Supporting Variants
SamplesHG03631
Known GenesRFTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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