A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306787



Internal ID14807049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212303391..212303392hg38UCSC Ensembl
Innerchr2:212303361..212303422hg38UCSC Ensembl
Outerchr2:212303360..212303423hg38UCSC Ensembl
chr2:213168116..213168117hg19UCSC Ensembl
Innerchr2:213168086..213168147hg19UCSC Ensembl
Outerchr2:213168085..213168148hg19UCSC Ensembl
chr2:212876361..212876362hg18UCSC Ensembl
Innerchr2:212876392..212876331hg18UCSC Ensembl
Outerchr2:212876330..212876393hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753533, essv7756305, essv7759520, essv7759671, essv7757530, essv7746722, essv7749960, essv7758299, essv7757935, essv7761007, essv7749448, essv7755966, essv7762898, essv7745128, essv7746574, essv7742909, essv7760530, essv7741370, essv7751956, essv7748807
SamplesNA18870, NA12249, NA18871, NA11920, NA18545, NA18516, NA18608, NA12287, NA11831, NA12716, NA19102, NA18522, NA18858, NA10851, NA19138, NA12749, NA19099, NA18571, NA11829, NA18532
Known GenesERBB4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306787
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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