A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600877



Internal ID6987916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68625844..68669334hg38UCSC Ensembl
chr4:69491562..69535052hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3843491
hg1943491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11485253, essv11485256, essv11485245, essv11485257, essv11485252, essv11485260, essv11485249, essv11485258, essv11485242, essv11485246, essv11485263, essv11485248, essv11485251, essv11485254, essv11485255, essv11485243, essv11485250, essv11485265, essv11485259, essv11485247, essv11485261, essv11485241, essv11485244, essv11485264, essv11485262
SamplesHG04096, HG04158, HG04002, HG03772, HG03009, HG03082, NA21108, HG03911, HG04185, HG03780, HG04062, NA19776, HG04017, HG03743, NA20821, HG02684, HG04006, NA19747, HG03727, HG04003, HG03896, NA21090, NA20849, NA20886, HG02778
Known GenesUGT2B15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600877
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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