A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612085



Internal ID6998987
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674662, essv12674663
SamplesNA19403, HG00171
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612085
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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