A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594383



Internal ID6981703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220530162..220541050hg38UCSC Ensembl
Innerchr2:220530199..220541014hg38UCSC Ensembl
Outerchr2:220530126..220541087hg38UCSC Ensembl
chr2:221394883..221405771hg19UCSC Ensembl
Innerchr2:221394920..221405735hg19UCSC Ensembl
Outerchr2:221394847..221405808hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3810889
hg1910889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10858408
SamplesHG01668
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594383
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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