A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10894258



Internal ID4158497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241566660..241567915hg38UCSC Ensembl
Innerchr2:241566660..241567915hg38UCSC Ensembl
Outerchr2:241566304..241568346hg38UCSC Ensembl
chr2:242506075..242507330hg19UCSC Ensembl
Innerchr2:242506075..242507330hg19UCSC Ensembl
Outerchr2:242505719..242507761hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594836
Supporting Variants
SamplesHG03760
Known GenesBOK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10894258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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