A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613768



Internal ID6653976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76515471..76527696hg38UCSC Ensembl
chr7:76144788..76157013hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3812226
hg1912226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12851121, essv12851116, essv12851120, essv12851119, essv12851115, essv12851117, essv12851118
SamplesNA18603, HG03057, NA19834, HG02283, HG02881, HG02367, HG01198
Known GenesUPK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613768
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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