A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873414



Internal ID564410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230012393..230014953hg38UCSC Ensembl
Innerchr2:230012395..230014951hg38UCSC Ensembl
Outerchr2:230012391..230014955hg38UCSC Ensembl
chr2:230877109..230879669hg19UCSC Ensembl
Innerchr2:230877111..230879667hg19UCSC Ensembl
Outerchr2:230877107..230879671hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594593
Supporting Variants
SamplesHG00246
Known GenesFBXO36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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