A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592296



Internal ID6979623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:125035542..125043214hg38UCSC Ensembl
Innerchr2:125035542..125043214hg38UCSC Ensembl
Outerchr2:125035253..125043514hg38UCSC Ensembl
chr2:125793119..125800791hg19UCSC Ensembl
Innerchr2:125793119..125800791hg19UCSC Ensembl
Outerchr2:125792830..125801091hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg387673
hg197673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10656442, essv10656437, essv10656445, essv10656439, essv10656444, essv10656440, essv10656443, essv10656441, essv10656438
SamplesHG00325, HG00323, HG00266, HG00183, HG01879, HG00258, NA20520, NA20763, HG04198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592296
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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