A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674626



Internal ID1880807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7288774..7395834hg38UCSC Ensembl
chr7:7328405..7435465hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38107061
hg19107061
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612074
Supporting Variants
SamplesHG01773
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674626
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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