A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596823



Internal ID6984137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:84650261..84653770hg38UCSC Ensembl
chr3:84699412..84702921hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383510
hg193510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11061234, essv11061233, essv11061235, essv11061232, essv11061231
SamplesNA19038, HG04106, HG03343, NA19740, HG03850
Known GenesLINC00971
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596823
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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