A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592887



Internal ID6980214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150429439..150437869hg38UCSC Ensembl
Innerchr2:150429439..150437869hg38UCSC Ensembl
Outerchr2:150428939..150438369hg38UCSC Ensembl
chr2:151285953..151294383hg19UCSC Ensembl
Innerchr2:151285953..151294383hg19UCSC Ensembl
Outerchr2:151285453..151294883hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg388431
hg198431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10710264, essv10710265
SamplesNA19355, NA20811
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592887
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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