A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644391



Internal ID7031146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41682404..41687675hg38UCSC Ensembl
chr19:42186335..42191604hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385272
hg195270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056163, essv16056172, essv16056167, essv16056164, essv16056168, essv16056174, essv16056157, essv16056173, essv16056160, essv16056162, essv16056175, essv16056158, essv16056161, essv16056166, essv16056156, essv16056171, essv16056169, essv16056170, essv16056165, essv16056176, essv16056159
SamplesNA18861, NA19704, NA18870, HG03485, NA20287, HG02489, HG01080, HG03394, HG02009, HG03132, HG03363, NA19707, HG03085, NA19113, NA20362, HG03473, HG02558, HG03060, HG02679, NA19431, HG03265
Known GenesCEACAM7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644391
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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