A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593925



Internal ID6981247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198303638..198305376hg38UCSC Ensembl
Innerchr2:198303644..198305371hg38UCSC Ensembl
Outerchr2:198303633..198305382hg38UCSC Ensembl
chr2:199168362..199170100hg19UCSC Ensembl
Innerchr2:199168368..199170095hg19UCSC Ensembl
Outerchr2:199168357..199170106hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381739
hg191739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10817561
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593925
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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