A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591093



Internal ID6631377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65065917..65070122hg38UCSC Ensembl
Innerchr2:65065917..65070122hg38UCSC Ensembl
Outerchr2:65065892..65070223hg38UCSC Ensembl
chr2:65293051..65297256hg19UCSC Ensembl
Innerchr2:65293051..65297256hg19UCSC Ensembl
Outerchr2:65293026..65297357hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384206
hg194206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10527219
SamplesNA12842
Known GenesCEP68
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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