A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674663



Internal ID6006117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7463126..7474729hg38UCSC Ensembl
chr7:7502757..7514360hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3811604
hg1911604
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612085
Supporting Variants
SamplesNA19403
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674663
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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