A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364056



Internal ID15211034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30188630..30189628hg38UCSC Ensembl
Innerchr16:30188629..30189629hg38UCSC Ensembl
Outerchr16:30187630..30190628hg38UCSC Ensembl
chr16:30199951..30200949hg19UCSC Ensembl
Innerchr16:30199950..30200950hg19UCSC Ensembl
Outerchr16:30198951..30201949hg19UCSC Ensembl
chr16:30107452..30108450hg18UCSC Ensembl
Innerchr16:30108451..30107451hg18UCSC Ensembl
Outerchr16:30106452..30109450hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689949
SamplesNA19239
Known GenesCORO1A, LOC606724
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364056
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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