A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612757



Internal ID6999657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33090999..33146015hg38UCSC Ensembl
chr7:33130611..33185627hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3855017
hg1955017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1278e214
Supporting Variantsessv12722383, essv12722378, essv12722381, essv12722379, essv12722382, essv12722380, essv12722384
SamplesHG01456, HG00641, HG01070, HG00266, HG00328, HG00155, HG00353
Known GenesBBS9, RP9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612757
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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