A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589720



Internal ID6977049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6292813..6305162hg38UCSC Ensembl
Innerchr2:6292849..6305127hg38UCSC Ensembl
Outerchr2:6292778..6305198hg38UCSC Ensembl
chr2:6432945..6445294hg19UCSC Ensembl
Innerchr2:6432981..6445259hg19UCSC Ensembl
Outerchr2:6432910..6445330hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3812350
hg1912350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10402405
SamplesHG01809
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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