A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594104



Internal ID6981424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208069581..208077041hg38UCSC Ensembl
Innerchr2:208069602..208077021hg38UCSC Ensembl
Outerchr2:208069561..208077062hg38UCSC Ensembl
chr2:208934305..208941765hg19UCSC Ensembl
Innerchr2:208934326..208941745hg19UCSC Ensembl
Outerchr2:208934285..208941786hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387461
hg197461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832916, essv10832925, essv10832923, essv10832926, essv10832920, essv10832921, essv10832924, essv10832917, essv10832922, essv10832915, essv10832919, essv10832918
SamplesHG01986, NA19393, HG01177, HG02505, HG02573, HG03212, NA19456, HG02678, NA19461, HG01403, HG01272, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594104
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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