A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593922



Internal ID6981244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198225363..198270410hg38UCSC Ensembl
Innerchr2:198225363..198270410hg38UCSC Ensembl
Outerchr2:198224863..198270910hg38UCSC Ensembl
chr2:199090087..199135134hg19UCSC Ensembl
Innerchr2:199090087..199135134hg19UCSC Ensembl
Outerchr2:199089587..199135634hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3845048
hg1945048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10817558
SamplesHG03694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593922
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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