A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593944



Internal ID6634222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199419189..199420999hg38UCSC Ensembl
Innerchr2:199419189..199420999hg38UCSC Ensembl
Outerchr2:199419082..199421129hg38UCSC Ensembl
chr2:200283912..200285722hg19UCSC Ensembl
Innerchr2:200283912..200285722hg19UCSC Ensembl
Outerchr2:200283805..200285852hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381811
hg191811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10818288
SamplesHG02655
Known GenesSATB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593944
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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