A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10879451



Internal ID6320389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233037606..233041582hg38UCSC Ensembl
Innerchr2:233037756..233041432hg38UCSC Ensembl
Outerchr2:233037456..233041732hg38UCSC Ensembl
chr2:233902316..233906292hg19UCSC Ensembl
Innerchr2:233902466..233906142hg19UCSC Ensembl
Outerchr2:233902166..233906442hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383977
hg193977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594668
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10879451
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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