A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10848871



Internal ID6320167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217380557..217493254hg38UCSC Ensembl
Innerchr2:217380707..217493104hg38UCSC Ensembl
Outerchr2:217380407..217493404hg38UCSC Ensembl
chr2:218245280..218357977hg19UCSC Ensembl
Innerchr2:218245430..218357827hg19UCSC Ensembl
Outerchr2:218245130..218358127hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38112698
hg19112698
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594317
Supporting Variants
SamplesNA19917
Known GenesDIRC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10848871
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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