A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590709



Internal ID6978038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49930870..49939676hg38UCSC Ensembl
Innerchr2:49930870..49939676hg38UCSC Ensembl
Outerchr2:49930658..49939873hg38UCSC Ensembl
chr2:50158008..50166814hg19UCSC Ensembl
Innerchr2:50158008..50166814hg19UCSC Ensembl
Outerchr2:50157796..50167011hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg388807
hg198807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10498731
SamplesHG04216
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590709
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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