A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592339



Internal ID6979666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126552181..126557978hg38UCSC Ensembl
Innerchr2:126552185..126557975hg38UCSC Ensembl
Outerchr2:126552178..126557982hg38UCSC Ensembl
chr2:127309758..127315555hg19UCSC Ensembl
Innerchr2:127309762..127315552hg19UCSC Ensembl
Outerchr2:127309755..127315559hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385798
hg195798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10660981, essv10660982
SamplesHG04100, HG03777
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592339
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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