A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591136



Internal ID6978464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66975638..66978334hg38UCSC Ensembl
Innerchr2:66975640..66978333hg38UCSC Ensembl
Outerchr2:66975637..66978336hg38UCSC Ensembl
chr2:67202770..67205466hg19UCSC Ensembl
Innerchr2:67202772..67205465hg19UCSC Ensembl
Outerchr2:67202769..67205468hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382697
hg192697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10532437, essv10532438, essv10532436
SamplesHG03753, HG03787, HG03846
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591136
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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