A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10893450



Internal ID6743934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241322580..241339193hg38UCSC Ensembl
Innerchr2:241322730..241339043hg38UCSC Ensembl
Outerchr2:241322430..241339343hg38UCSC Ensembl
chr2:242261995..242278608hg19UCSC Ensembl
Innerchr2:242262145..242278458hg19UCSC Ensembl
Outerchr2:242261845..242278758hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816614
hg1916614
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594826
Supporting Variants
SamplesNA20862
Known GenesSEPT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10893450
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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