A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593945



Internal ID6634223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199435869..199441639hg38UCSC Ensembl
Innerchr2:199435919..199441589hg38UCSC Ensembl
Outerchr2:199435799..199441709hg38UCSC Ensembl
chr2:200300592..200306362hg19UCSC Ensembl
Innerchr2:200300642..200306312hg19UCSC Ensembl
Outerchr2:200300522..200306432hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385771
hg195771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10818289
SamplesHG03040
Known GenesSATB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593945
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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